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Journal articles on the topic 'Angelmanův syndrom'

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Published: 4 June 2021

Last updated: 4 February 2022

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1

Salminen, Iiro Ilmari, Bernard J. Crespi, and Mikael Mokkonen. "Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes." SAGE Open Medicine 7 (January 2019): 205031211882358. http://dx.doi.org/10.1177/2050312118823585.

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Prader–Willi and Angelman syndromes are often referred to as a sister pair of neurodevelopmental disorders, resulting from different genetic and epigenetic alterations to the same chromosomal region, 15q11-q13. Some of the primary phenotypes of the two syndromes have been suggested to be opposite to one another, but this hypothesis has yet to be tested comprehensively, and it remains unclear how opposite effects could be produced by changes to different genes in one syndrome compared to the other. We evaluated the evidence for opposite effects on sleep and eating phenotypes in Prader–Willi syndrome and Angelman syndrome, and developed physiological–genetic models that represent hypothesized causes of these differences. Sleep latency shows opposite deviations from controls in Prader–Willi and Angelman syndromes, with shorter latency in Prader–Willi syndrome by meta-analysis and longer latency in Angelman syndrome from previous studies. These differences can be accounted for by the effects of variable gene dosages of UBE3A and MAGEL2, interacting with clock genes, and leading to acceleration (in Prader–Willi syndrome) or deceleration (in Angelman syndrome) of circadian rhythms. Prader–Willi and Angelman syndromes also show evidence of opposite alterations in hyperphagic food selectivity, with more paternally biased subtypes of Angelman syndrome apparently involving increased preference for complementary foods (“baby foods”); hedonic reward from eating may also be increased in Angelman syndrome and decreased in Prader–Willi syndrome. These differences can be explained in part under a model whereby hyperphagia and food selectivity are mediated by the effects of the genes SNORD-116, UBE3A and MAGEL2, with outcomes depending upon the genotypic cause of Angelman syndrome. The diametric variation observed in sleep and eating phenotypes in Prader–Willi and Angelman syndromes is consistent with predictions from the kinship theory of imprinting, reflecting extremes of higher resource demand in Angelman syndrome and lower demand in Prader–Willi syndrome, with a special emphasis on social–attentional demands and attachment associated with bedtime, and feeding demands associated with mother-provided complementary foods compared to offspring-foraged family-type foods.

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2

Luk, Ho-Ming. "Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases." Case Reports in Genetics 2016 (2016): 1–6. http://dx.doi.org/10.1155/2016/9790169.

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Epigenetic abnormalities in 15q11-13 imprinted region andUBE3Amutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of these test negative Angelman-like Syndromes actually have alternative diagnoses. Accurate molecular diagnosis is paramount for genetic counseling and subsequent management. Despite overlapping phenotypes between Angelman and Angelman-like Syndrome, there are some subtle but distinct features which could differentiate them clinically. It would provide important clue during the diagnostic process for clinicians.

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3

Tsagkaris, Christos, Vasiliki Papakosta, Adriana Viola Miranda, Lefkothea Zacharopoulou, Valeriia Danilchenko, Lolita Matiashova, and Amrit Dhar. "Gene Therapy for Angelman Syndrome: Contemporary Approaches and Future Endeavors." Current Gene Therapy 19, no. 6 (April 25, 2020): 359–66. http://dx.doi.org/10.2174/1566523220666200107151025.

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Background: Angelman Syndrome (AS) is a congenital non inherited neurodevelopmental disorder. The contemporary AS management is symptomatic and it has been accepted that gene therapy may play a key role in the treatment of AS. Objective: The purpose of this study is to summarize existing and suggested gene therapy approaches to Angelman syndrome. Methods: This is a literature review. Pubmed and Scopus databases were researched with keywords (gene therapy, Angelman’s syndrome, neurological disorders, neonates). Peer-reviewed studies that were closely related to gene therapies in Angelman syndrome and available in English, Greek, Ukrainian or Indonesian were included. Studies that were published before 2000 were excluded and did not align with the aforementioned criteria. Results: UBE3A serves multiple roles in signaling and degradation procedures. Although the restoration of UBE3A expression rather than targeting known activities of the molecule would be the optimal therapeutic goal, it is not possible so far. Reinstatement of paternal UBE3A appears as an adequate alternative. This can be achieved by administering topoisomerase-I inhibitors or reducing UBE3A antisense transcript (UBE3A-ATS), a molecule which silences paternal UBE3A. Conclusion: Understanding UBE3A imprinting unravels the path to an etiologic treatment of AS. Gene therapy models tested on mice appeared less effective than anticipated pointing out that activation of paternal UBE3A cannot counteract the existing CNS defects. On the other hand, targeting abnormal downstream cell signaling pathways has provided promising rescue effects. Perhaps, combined reinstatement of paternal UBE3A expression with abnormal signaling pathways-oriented treatment is expected to provide better therapeutic effects. However, AS gene therapy remains debatable in pharmacoeconomics and ethics context.

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4

Froster, Ursula, Matthias Bernhard, Annegret Kujat, Andreas Merkenschlager, and Sibylle Strenge. "Häufige Mikrodeletionssyndrome." Kinder- und Jugendmedizin 7, no. 04 (2007): 189–96. http://dx.doi.org/10.1055/s-0037-1617965.

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ZusammenfassungAls Ursache einer großen Zahl von MCA/MR-Syndromen (multiple kongenitale Anomalien/mentale Retardierung) wurden Mikrodeletionen identifiziert. Wir veranschaulichen häufige Mikrodeletionssyndrome unter Berücksichtigung der zugrunde liegenden genetischen Faktoren, der klinischen Aspekte und diagnostischen Möglichkeiten. Patienten mit Prader-Willi-Syndrom, Angelman-Syndrom, Williams-Beuren-Syndrom sowie Patienten mit einer Mikrodeletion 22q11.2 werden vorgestellt.

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5

Park, Sung-Hee, Teo-Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Jung-Wook Kim, Sang-Hoon Lee, Chong-Chul Kim, and Ki-Taeg Jang. "DENTAL TREATMENT IN A PATIENT WITH ANGELMAN SYNDROME DUE TO UNIPARENTAL DISOMY." Journal of Korea Assosiation for Disability and Oral Health 12, no. 1 (June 30, 2016): 11–15. http://dx.doi.org/10.12655/kadh.2016.12.1.11.

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6

Cesaityte, Karina, and Danielius Serapinas. "The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences." Genetika 48, no. 3 (2016): 859–66. http://dx.doi.org/10.2298/gensr1603859c.

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Microdeletion syndrome is a rare condition which can be diagnosed by fluorescent in situ hybridization (FISH) method. We analyzed microdeletion syndromes cases during ten years period (2005-2015) at The Hospital of Lithuanian University of Health Sciences. We report 2 patients with Prader-Willi syndrome, 2 patients with Smith-Magenis syndrome, 1 patient with Angelman syndrome and 1 patient with Cri du Chat syndrome. All syndromes were confirmed by FISH. These cases contain mainly data about phenotype abnormalities and clinical symptoms.

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7

Zhang, Melvyn W. B., Nikki Fong, Ying Hui Quek, Cyrus S. H. Ho, Beng Yeong Ng, and Roger C. M. Ho. "Microdeletion syndromes and psychiatry: An update." BJPsych Advances 23, no. 3 (May 2017): 149–57. http://dx.doi.org/10.1192/apt.bp.114.012864.

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SummaryMicrodeletion syndrome is an important topic in intellectual disability, associated with various psychiatric symptoms, such as autism, attention deficit, hyperactivity, obsession and compulsion, and psychosis. In this article, we provide a clinical update on the following syndromes and their associated psychiatric disorders: Prader–Willi syndrome, Angelman syndrome, Williams syndrome, Wolf–Hirschhorn syndrome, cri du chat syndrome, DiGeorge syndrome and Rubinstein–Taybi syndrome.Learning Objectives• Gain an up-to-date understanding of the microdeletion syndromes commonly seen in daily practice• Appreciate the association between underlying chromosomal abnormalities and the resultant intellectual disabilities in microdeletion syndromes• Gain up-to-date knowledge about the treatment options for the various microdeletion syndromes commonly seen in daily practice

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8

Scheffer, I., E. M. Brett, J. Wilson, and M. Baraitser. "Angelman's syndrome." Journal of Medical Genetics 27, no. 4 (April 1, 1990): 275–77. http://dx.doi.org/10.1136/jmg.27.4.275-a.

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9

Clayton-Smith, J. "Angelman's syndrome." Archives of Disease in Childhood 67, no. 7 (July 1, 1992): 889–90. http://dx.doi.org/10.1136/adc.67.7.889.

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10

MCKINLAY, I. A. "Angelman's Syndrome." Developmental Medicine & Child Neurology 24, no. 2 (November 12, 2008): 198. http://dx.doi.org/10.1111/j.1469-8749.1982.tb08803.x.

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11

Ryan, Conor S., Wendy Edlund, Jay Mandrekar, Lily C. Wong-Kisiel, Ralitza H. Gavrilova, and Suresh Kotagal. "Iron Deficiency and Its Role in Sleep Disruption in Patients With Angelman Syndrome." Journal of Child Neurology 35, no. 14 (July 27, 2020): 963–69. http://dx.doi.org/10.1177/0883073820941755.

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Objective: To determine if Angelman syndrome patients with sleep complaints have an increased risk of iron deficiency, and if iron therapy improves their sleep difficulties. Background: About two-thirds of Angelman syndrome patients experience sleep difficulties, which are likely multifactorial. Because iron deficiency can contribute toward restlessness in sleep, we investigated whether it might be a contributing factor in this special population. Methods: This retrospective study involved medical record review of Angelman syndrome patients <18 years old who had attended our multidisciplinary Angelman syndrome clinic and had sleep complaints. Serum ferritin levels were compared to age- and sex-matched controls. Sleep history and nocturnal polysomnogram findings of the Angelman syndrome patients were also characterized. Results: Nineteen Angelman syndrome patients (9 female, mean age 6.2±4.4 years) were identified. All 19 reported sleep difficulties. The mean serum ferritin level was 19.9±8.5 μg/L, while that in controls was 27.8±17.8 μg/L ( P value .13). The odds ratio of iron deficiency in Angelman syndrome compared to controls was 4.17 (95% confidence interval 1.23-14.10), using normal serum ferritin level of 24 μg/L based on literature. Fifteen Angelman syndrome patients underwent nocturnal polysomnogram with 9/15 showing an elevated periodic limb movement index (overall mean 9.8±10.4). Seventeen of 19 received iron therapy. Twelve had follow-up after iron therapy, with parents reporting improved sleep quality. Eight had serum ferritin levels rechecked after iron therapy, showing a mean increase of 24±5.1 μg/L. Conclusions: Sleep difficulties in Angelman syndrome, though multifactorial, may in part be related to iron deficiency. Treatment with iron improved sleep to a modest degree in this population.

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12

Clayton-Smith, Jill. "Angelman syndrome." Journal of Pediatric Neurology 08, no. 01 (July 30, 2015): 097–99. http://dx.doi.org/10.3233/jpn-2010-0372.

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13

Guerrini, Renzo, Romeo Carrozzo, Roberta Rinaldi, and Paolo Bonanni. "Angelman Syndrome." Pediatric Drugs 5, no. 10 (2003): 647–61. http://dx.doi.org/10.2165/00148581-200305100-00001.

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14

Henderson, H. P. "Angelman syndrome." British Journal of Plastic Surgery 46, no. 2 (January 1993): 175–76. http://dx.doi.org/10.1016/0007-1226(93)90158-8.

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15

Williams, Charles A., Roberto T. Zori, Jill Hendrickson, Heather Stalker, Tiffany Marum, Elaine Whidden, and Daniel J. Driscoll. "Angelman syndrome." Current Problems in Pediatrics 25, no. 7 (August 1995): 216–31. http://dx.doi.org/10.1016/s0045-9380(06)80036-8.

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16

Clayton-Smith, J., and M. E. Pembrey. "Angelman syndrome." Journal of Medical Genetics 29, no. 6 (June 1, 1992): 412–15. http://dx.doi.org/10.1136/jmg.29.6.412.

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17

Smith, Ellie. "Angelman Syndrome." Journal of Paediatrics and Child Health 46, no. 12 (December 2010): 790. http://dx.doi.org/10.1111/j.1440-1754.2010.01921.x.

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18

Margolis, Seth S., Gabrielle L. Sell, Mark A. Zbinden, and Lynne M. Bird. "Angelman Syndrome." Neurotherapeutics 12, no. 3 (June 4, 2015): 641–50. http://dx.doi.org/10.1007/s13311-015-0361-y.

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19

Panov, Julia, and Hanoch Kaphzan. "Angelman Syndrome and Angelman-like Syndromes Share the Same Calcium-Related Gene Signatures." International Journal of Molecular Sciences 22, no. 18 (September 13, 2021): 9870. http://dx.doi.org/10.3390/ijms22189870.

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Angelman-like syndromes are a group of neurodevelopmental disorders that entail clinical presentation similar to Angelman Syndrome (AS). In our previous study, we showed that calcium signaling is disrupted in AS, and we identified calcium-target and calcium-regulating gene signatures that are able to differentiate between AS and their controls in different models. In the herein study, we evaluated these sets of calcium-target and calcium-regulating genes as signatures of AS-like and non-AS-like syndromes. We collected a number of RNA-seq datasets of various AS-like and non-AS-like syndromes and performed Principle Component Analysis (PCA) separately on the two sets of signature genes to visualize the distribution of samples on the PC1–PC2 plane. In addition to the evaluation of calcium signature genes, we performed differential gene expression analyses to identify calcium-related genes dysregulated in each of the studied syndromes. These analyses showed that the calcium-target and calcium-regulating signatures differentiate well between AS-like syndromes and their controls. However, in spite of the fact that many of the non-AS-like syndromes have multiple differentially expressed calcium-related genes, the calcium signatures were not efficient classifiers for non-AS-like neurodevelopmental disorders. These results show that features based on clinical presentation are reflected in signatures derived from bioinformatics analyses and suggest the use of bioinformatics as a tool for classification.

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20

Sankar, Raman. "Angelman Syndrome: Need for Further Illumination in the Theater of the Happy Puppet." Epilepsy Currents 5, no. 6 (November 2005): 220–22. http://dx.doi.org/10.1111/j.1535-7511.2005.00069.x.

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Analysis of the Characteristics of Epilepsy in 37 Patients with the Molecular Diagnosis of Angelman Syndrome Galvan-Manso M, Campistol J, Conill J, Sanmarti FX Epileptic Disord 2005;7:19–25 Angelman syndrome is a genetic disorder caused by defects in the maternally inherited imprinted domain located on chromosome 15q11-q13. Most patients with Angelman syndrome have severe mental retardation, characteristic physical appearance, behavioral traits, and severe, early-onset epilepsy. We retrospectively reviewed the medical histories of 37 patients, all with the molecular diagnosis of Angelman syndrome and at least 3 years of follow-up in our neurology department, for further information about their epilepsy: age at onset, type of seizures initially and during follow-up, EEG recordings, treatments, and response. The molecular studies showed 87% deletions de novo; 8% uniparental, paternal disomy; and 5% imprinting defects. The median age at diagnosis was 6.5 years, with 20% having begun to manifest febrile seizures at an average age of 1.9 years. Nearly all (95%) had epilepsy, the majority younger than 3 years (76%). The most frequent seizure types were myoclonic, atonic, generalized tonic–clonic, and atypical absences. At onset, two patients exhibited West syndrome. EEG recordings typical of Angelman syndrome were found in 68%. Normalization of EEG appeared in 12 patients after 9 years. Control of epileptic seizures improved after the age of 8.5 years. The most effective treatments were valproic acid and clonazepam. We conclude that epilepsy was present in nearly all of our cases with Angelman syndrome and that the EEG can be a useful diagnostic tool. On comparing the severity of epilepsy with the type of genetic alteration, we did not find any statistically significant correlations.

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21

Albrecht, B., and K. Buiting. "Prader-Willi-Syndrom und Angelman-Syndrom." medizinische genetik 22, no. 4 (December 2010): 392–98. http://dx.doi.org/10.1007/s11825-010-0250-z.

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22

Moss, Joanna, Lisa Nelson, Laurie Powis, Jane Waite, Caroline Richards, and Chris Oliver. "A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder." American Journal on Intellectual and Developmental Disabilities 121, no. 6 (November 1, 2016): 465–86. http://dx.doi.org/10.1352/1944-7558-121.6.465.

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Abstract Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12–18yrs; >18yrs) comparisons of SQID scores were conducted. Rates of behaviors indicative of selective mutism were also examined. Fragile X syndrome achieved the lowest SQID scores. Cornelia de Lange, ASD, and Fragile X groups scored significantly lower than Angelman, Down and Rubinstein Taybi groups. Selective mutism characteristics were highest in Cornelia de Lange (40%) followed by Fragile X (17.8%) and ASD (18.2%). Age-band differences were identified in Cornelia de Lange and Down syndrome.

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23

Riedel, M., and H. Lohse-Busch. "Patienten mit Angelman-Syndrom." Manuelle Medizin 39, no. 3 (June 1, 2001): 133–36. http://dx.doi.org/10.1007/s003370170042.

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24

Witte, W., C. Nobel, and J. Hilpert. "Anästhesie beim Angelman-Syndrom." Der Anaesthesist 60, no. 7 (March 16, 2011): 633–40. http://dx.doi.org/10.1007/s00101-011-1873-4.

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25

Scheiffele, Peter, and Asim A. Beg. "Angelman syndrome connections." Nature 468, no. 7326 (December 2010): 907–8. http://dx.doi.org/10.1038/468907a.

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26

Paprocka, Justyna, Ewa Jamroz, Barbara Szwed-Bia??o??yt, Aleksandra Jezela-Stanek, Ilona Kopyta, and El??bieta Marsza?? "Angelman Syndrome Revisited." Neurologist 13, no. 5 (September 2007): 305–12. http://dx.doi.org/10.1097/01.nrl.0000253067.32759.aa.

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27

Wong, D., S. M. Johnson, D. Young, L. Iwamoto, S. Sood, and T. P. Slavin. "Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts." Case Reports in Genetics 2013 (2013): 1–3. http://dx.doi.org/10.1155/2013/801094.

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The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C) and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

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28

Millichap, J. Gordon. "Epilepsy in Angelman’s Syndrome." Pediatric Neurology Briefs 23, no. 12 (December 1, 2009): 90. http://dx.doi.org/10.15844/pedneurbriefs-23-12-2.

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29

Millichap, J. Gordon. "Angelman’s Syndrome: Pathological Study." Pediatric Neurology Briefs 5, no. 5 (May 1, 1991): 33. http://dx.doi.org/10.15844/pedneurbriefs-5-5-1.

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30

Greally, J. M. "Imprinting and Angelman's syndrome." Journal of Medical Genetics 27, no. 10 (October 1, 1990): 663. http://dx.doi.org/10.1136/jmg.27.10.663.

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31

Yamada, Kelvin A., and Joseph J. Volpe. "Angelman's Syndrome in Infancy." Developmental Medicine & Child Neurology 32, no. 11 (November 12, 2008): 1005–11. http://dx.doi.org/10.1111/j.1469-8749.1990.tb08124.x.

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32

Kennedy, Andrew J., and Jeffrey O. Henderson. "Angelman Syndrome: An Autism Spectrum Disorder." Journal of Student Research 6, no. 2 (May 9, 2018): 56–60. http://dx.doi.org/10.47611/jsr.v6i2.399.

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Neurodevelopmental disorders limit the mental, physical, and social lives of affected individuals and their families. These disorders are often related to genetic abnormalities having a distinct chromosomal location. The abnormalities can cause incorrect proteins to be formed or biochemical pathways to be blocked, predominately affecting brain development, but also having pleiotropic effects. Research into defining and correcting these genetic abnormalities is important to help distinguish between unique neurodevelopmental disorders so that proper clinical interventions are available for affected individuals. In the following review, Angelman syndrome, which results from UBE3A gene function being lost at maternal chromosome 15q11.2-q13, will be discussed. Angelman patients suffer from the defining characteristics of speech impairment, uncontrolled laughing and smiling, motor development issues, muscle tension, and possible ataxia. The genetic mechanisms of the disorder as well as possible therapies will be discussed, with future areas of research into genetic therapies to treat Angelman syndrome also put forth. Research into Angelman syndrome can provide an avenue for a clearer understanding of other neurodevelopmental disorders.

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33

Pulsifer, Margaret B. "The neuropsychology of mental retardation." Journal of the International Neuropsychological Society 2, no. 2 (March 1996): 159–76. http://dx.doi.org/10.1017/s1355617700001016.

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AbstractThis critical review examines mental retardation (MR) from a neuropsychological perspective. Competing definitions of MR are discussed and the prevalence is estimated. Descriptions are given of idiopathic MR and the five major identifiable prenatal causes of MR: fetal alcohol syndrome, Down's syndrome, fragile X syndrome, Prader-Willi syndrome, and Angelman syndrome. Similarities and differences among syndromes are examined. Cognitive deficits common to all disorders were in attention, short-term memory, and sequential information processing, whereas language and visuospatial abilities were varied. Neuroanatomical abnormalities common to all disorders were in the hippocampus and cerebellum; individual disorders typically showed a unique pattern of other neurological abnormalities. Both knowledge of individual MR-related disorders and comparative research between disorders are important for researchers and clinicians. Further research is called for in both areas. (JINS, 1996, 2, 159–176.)

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34

Lerch, N., N. Bösch, Hj Müller, and N. J. Malik. "Prader-Willi- und Angelman-Syndrom." Monatsschrift Kinderheilkunde 148, no. 7 (July 14, 2000): 691–95. http://dx.doi.org/10.1007/s001120050621.

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35

Gambardella, Stefano, Erika Ciabattoni, Francesca Motta, Giusy Stoico, Francesca Gullotta, Michela Biancolella, Anna Maria Nardone, et al. "Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities." Genomics Insights 3 (January 2010): GEI.S3683. http://dx.doi.org/10.4137/gei.s3683.

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We designed a targeted-array called GOLD (Gain or Loss Detection) Chip consisting of 900 FISH-mapped non-overlapping BAC clones spanning the whole genome to enhance the coverage of 66 unique human genomic regions involved in well known microdeletion/microduplication syndromes. The array has a 10 Mb backbone to guarantee the detection of the aneuploidies, and has an implemented resolution for telomeres, and for regions involved in common genomic diseases. In order to evaluate clinical diagnostic applicability of GOLDChip, analytical validity was carried-out via retrospective analysis of DNA isolated from a series of cytogenetically normal amniocytes and cytogenetically abnormal DNA obtained from cultured amniocytes, peripheral blood and/or cell lines. We recruited 47 DNA samples corresponding to pathologies with significant frequencies (Cri du Chat syndrome, Williams syndrome, Prader Willi/Angelman syndromes, Smith-Magenis syndrome, DiGeorge syndrome, Miller-Dieker syndrome, chromosomes 13, 18 and 21 trisomies). We set up an experimental protocol that allowed to identify chromosomal rearrangements in all the DNA samples analyzed. Our results provide evidence that our targeted BAC array can be used for the identification of the most common microdeletion syndromes and common aneuploidies.

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36

Millichap, J. Gordon. "Angelman Syndrome and Epilepsy." Pediatric Neurology Briefs 7, no. 1 (January 1, 1993): 2. http://dx.doi.org/10.15844/pedneurbriefs-7-1-3.

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37

Millichap, J. Gordon. "Myoclonus in Angelman Syndrome." Pediatric Neurology Briefs 10, no. 10 (October 1, 1996): 79. http://dx.doi.org/10.15844/pedneurbriefs-10-10-11.

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38

Millichap, J. Gordon. "Angelman Syndrome and Epilepsy." Pediatric Neurology Briefs 20, no. 2 (February 1, 2006): 10. http://dx.doi.org/10.15844/pedneurbriefs-20-2-2.

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39

Pollack, Sarah F., Olivia R. Grocott, Kimberly A. Parkin, Anna M. Larson, and Ronald L. Thibert. "Myoclonus in Angelman syndrome." Epilepsy & Behavior 82 (May 2018): 170–74. http://dx.doi.org/10.1016/j.yebeh.2018.02.006.

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40

Millichap, J. Gordon. "Angelman Syndrome: Chromosome Abnormality." Pediatric Neurology Briefs 6, no. 12 (December 1, 1992): 96. http://dx.doi.org/10.15844/pedneurbriefs-6-12-12.

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41

Pelc, Karine, Stewart G. Boyd, Guy Cheron, and Bernard Dan. "Epilepsy in Angelman syndrome." Seizure 17, no. 3 (April 2008): 211–17. http://dx.doi.org/10.1016/j.seizure.2007.08.004.

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42

Jiang, Yong-hui, Efrat Lev-Lehman, Jan Bressler, Ting-Fen Tsai, and Arthur L. Beaudet. "Genetics of Angelman Syndrome." American Journal of Human Genetics 65, no. 1 (July 1999): 1–6. http://dx.doi.org/10.1086/302473.

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43

Zori, Roberto T., Jill Hendrickson, Sheila Woolven, Elaine M. Whidden, Brian Gray, and Charles A. Williams. "Angelman Syndrome: Clinical Profile." Journal of Child Neurology 7, no. 3 (July 1992): 270–80. http://dx.doi.org/10.1177/088307389200700307.

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Patil, Jayaprakash J., and Seema Sindhakar. "Angelman syndrome and anesthesia." Pediatric Anesthesia 18, no. 12 (October 30, 2008): 1219–20. http://dx.doi.org/10.1111/j.1460-9592.2008.02702.x.

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King, Richard A., Georgia L. Wiesner, Dewayne Townsend, and James G. White. "Hypopigmentation in Angelman syndrome." American Journal of Medical Genetics 46, no. 1 (April 1, 1993): 40–60. http://dx.doi.org/10.1002/ajmg.1320460109.

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Laan, Laura A. E. M., Annemieke Th den Boer, Raoul C. M. Hennekam, Willy O. Renier, and Oebele F. Brouwer. "Angelman syndrome in adulthood." American Journal of Medical Genetics 66, no. 3 (December 18, 1996): 356–60. http://dx.doi.org/10.1002/(sici)1096-8628(19961218)66:3<356::aid-ajmg21>3.0.co;2-k.

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Larson, Anna M., Julianna E. Shinnick, Elias A. Shaaya, Elizabeth A. Thiele, and Ronald L. Thibert. "Angelman syndrome in adulthood." American Journal of Medical Genetics Part A 167, no. 2 (November 26, 2014): 331–44. http://dx.doi.org/10.1002/ajmg.a.36864.

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Ramanathan, K. R., D. Muthuswamy, and B. J. Jenkins. "Anaesthesia for Angelman syndrome." Anaesthesia 63, no. 6 (June 2008): 659–61. http://dx.doi.org/10.1111/j.1365-2044.2008.05439.x.

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Trillingsgaard, Anegen, and John R. Østergaard. "Autism in Angelman Syndrome." Autism 8, no. 2 (June 2004): 163–74. http://dx.doi.org/10.1177/1362361304042720.

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Clayton-Smith, Jill. "Book Review: Angelman Syndrome." Developmental Medicine & Child Neurology 51, no. 11 (October 1, 2009): 894. http://dx.doi.org/10.1111/j.1469-8749.2009.03502.x.

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