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Artykuły w czasopismach na temat „Familial inversion”

Autor: Grafiati

Data publikacji: 2 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Rigola, Maria A., Neus Baena, Vicenç Català, et al. "A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability." Cytogenetic and Genome Research 146, no. 2 (2015): 109–14. http://dx.doi.org/10.1159/000437127.

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Most apparent balanced chromosomal inversions are usually clinically asymptomatic; however, infertility, miscarriages, and mental retardation have been reported in inversion carriers. We present a small family with a paracentric inversion 1q42.13q43 detected in routine prenatal diagnosis. Molecular cytogenetic methods defined the size of the inversion as 11.7 Mb and excluded other unbalanced chromosomal alterations in the patients. Our findings suggest that intellectual disability is caused by dysfunction, disruption, or position effects of genes located at or near the breakpoints involved in

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2

Boyd, H., J. Kaste, E. Hovi, et al. "Familial pericentric inversion inv(8)(p23q11)." Journal of Medical Genetics 31, no. 3 (1994): 201–5. http://dx.doi.org/10.1136/jmg.31.3.201.

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3

Voiculescu, I., G. Barbi, G. Wolff, P. Steinbach, Elke Back, and W. Schempp. "Familial pericentric inversion of chromosome 12." Human Genetics 72, no. 4 (1986): 320–22. http://dx.doi.org/10.1007/bf00290957.

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4

Schmid, M., R. Hofmann, J. Köhler, and U. Jannek. "Familial paracentric inversion in(2)(q31q36)." Human Genetics 71, no. 3 (1985): 270–72. http://dx.doi.org/10.1007/bf00284590.

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5

ŞAHİN, Feride İffet, Filiz BAL, and Sevda MENEVŞE. "Familial Pericentric Inversion of Chromosome 3 (p14.3q25.3)." Turkish Journal of Medical Sciences 27, no. 4 (1997): 383–84. http://dx.doi.org/10.55730/1300-0144.5062.

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6

Pellegrini, Sandra, Maria Ribeiro, Evelyn Kahn, et al. "Familial Study of Paracentric Inversion in Chromosome 3p." British Journal of Medicine and Medical Research 3, no. 3 (2016): 760–70. http://dx.doi.org/10.9734/bjmmr/2013/2170.

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7

Uehara, Shigeki, Toshifumi Takabayashi, Yoichi Takeyama, Kunihiro Okamura, and Akira Yajima. "Familial pericentric inversion incidentally detected at prenatal diagnosis." Japanese journal of human genetics 40, no. 3 (1995): 259–63. http://dx.doi.org/10.1007/bf01876184.

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8

Ali Raza, S., S. Mahendran, Nazneen Rahman, and R. G. Williams. "Familial vocal fold paralysis." Journal of Laryngology & Otology 116, no. 12 (2002): 1047–49. http://dx.doi.org/10.1258/002221502761698829.

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Familial clustering of congenital bilateral abductor vocal fold paralysis has been reported very rarely. So far, only a handful of cases have been reported, mostly with the autosomal dominant of X-linked recessive mode of inheritance. We describe the cases of a brother and sister, who presented with neonatal stridor due to bilateral abductor vocal fold paralysis. First-degree parental consanguinity suggests an autosomal recessive mode of inheritance. Karyotype analysis revealed a paracentric balanced inversion of chromosome 13 in both cases, that was also present in the unaffected mother. An u

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9

Stipoljev, F., M. Stanojevic, and A. Kurjak. "Familial pericentric inversion of chromosome 4: inv(4)(p16.1q12)." Clinical Genetics 61, no. 5 (2002): 386–88. http://dx.doi.org/10.1034/j.1399-0004.2002.610513.x.

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10

Kozma, Chahira, and Jeanne M. Meck. "Familial 10p trisomy resulting from a maternal pericentric inversion." American Journal of Medical Genetics 49, no. 3 (1994): 281–87. http://dx.doi.org/10.1002/ajmg.1320490308.

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11

Kariv, Revital, Dvir Dahary, Yuval Yaron, Yael Petel-Galil, Mira Malcov, and Guy Rosner. "Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations." Genes 13, no. 8 (2022): 1408. http://dx.doi.org/10.3390/genes13081408.

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Hamartomatous polyposis syndromes (HPS) are rare cancer-predisposing disorders including Juvenile polyposis (JPS), Peutz–Jeghers (PJS) and PTEN hamartomatous syndromes (PHS). Penetrant mutations in corresponding genes (SMAD4, BMPR1A, STK11, PTEN and AKT1), are usually diagnosed via a next-generation-sequencing gene panel (NGS-GP) for tailored surveillance and preimplantation testing for monogenic disorders (PGT-M). Five probands with HPS phenotype, with no genetic diagnosis per genetic workup, underwent whole-genome sequencing (WGS) that identified structural genetic alterations: two novel inv

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12

Li, Ranwei, Haitao Fan, Qiushuang Zhang, Xiao Yang, Peng Zhan, and Shuqiang Feng. "Pericentric inversion in chromosome 1 and male infertility." Open Medicine 15, no. 1 (2020): 343–48. http://dx.doi.org/10.1515/med-2020-0404.

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AbstractPericentric inversion in chromosome 1 was thought to cause male infertility through spermatogenic impairment, regardless of the breakpoint position. However, carriers of pericentric inversion in chromosome 1 have been reported with normal fertility and familial transmission. Here, we report two cases of pericentric inversion in chromosome 1. One case was detected in utero via amniocentesis, and the other case was detected after the wife of the carrier experienced two spontaneous abortions within 5 years of marriage. Here, the effect of the breakpoint position of the inversion in chromo

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13

Kukolich, M. K., B. W. Althaus, J. W. Sears, C. B. Mankinen, and R. C. Lewandowski. "Abnormalities resulting from a familial pericentric inversion of chromosome 18." Clinical Genetics 14, no. 2 (2008): 98–104. http://dx.doi.org/10.1111/j.1399-0004.1978.tb02113.x.

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14

Donti, Emilio, Antonella Rosetti, Ida Carloni, and Giovanna Venti Donti. "A new case of familial paracentric inversion of chromosome 2." Human Genetics 75, no. 2 (1987): 195. http://dx.doi.org/10.1007/bf00591087.

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15

Malvestiti, Francesca, Francesco Benedicenti, Simona De Toffol, et al. "Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes." Case Reports in Genetics 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/306098.

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Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.

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16

Çalışır, Metin, and Özgür Muhammer Çevik. "Familial Non-Syndromic Oligodontia Attributable to Pericentric Inversion of Ninth Chromosome." Journal of Ege University School of Dentistry 40, no. 1 (2019): 65–68. http://dx.doi.org/10.5505/eudfd.2019.58561.

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17

Lall, Meena, Pushpa Saviour, Ratna Puri, and Ishwar Verma. "A familial deletion 4q syndrome: An outcome of a paracentric inversion." Indian Journal of Human Genetics 18, no. 2 (2012): 238. http://dx.doi.org/10.4103/0971-6866.100780.

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18

Richter, S., B. Lockwood, D. Lockwood, and J. Allanson. "Abnormal chromosome complement resulting from a familial inversion of chromosome 2." Journal of Medical Genetics 26, no. 11 (1989): 725–29. http://dx.doi.org/10.1136/jmg.26.11.725.

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19

Lee, Kyu Bak, Hiroshi Kunugi, and Shinichiro Nanko. "Familial schizophrenia with pericentric inversion of chromosome 9: a case report." Schizophrenia Research 32, no. 2 (1998): 123–26. http://dx.doi.org/10.1016/s0920-9964(98)00031-0.

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20

Speleman, Frank, Nadine Roy, Eric De Vos, Carl Hilliker, Ron F. S. Suijkerbuijk, and Juies G. Leroy. "Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12." Clinical Genetics 44, no. 3 (2008): 156–63. http://dx.doi.org/10.1111/j.1399-0004.1993.tb03869.x.

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21

Greenberg, Frank, Robert F. Stratton, Lillian H. Lockhart, et al. "Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17." American Journal of Medical Genetics 23, no. 4 (1986): 853–59. http://dx.doi.org/10.1002/ajmg.1320230402.

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22

Couzin, David A., Jessie L. Watt, and Gordon S. Stephen. "The prenatal detection of a familial pericentric inversion of chromosome 19." Prenatal Diagnosis 6, no. 1 (1986): 79–82. http://dx.doi.org/10.1002/pd.1970060112.

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23

Meeths, Marie, Samuel C. C. Chiang, Stephanie M. Wood, et al. "Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D." Blood 118, no. 22 (2011): 5783–93. http://dx.doi.org/10.1182/blood-2011-07-369090.

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Abstract Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive, often-fatal hyperinflammatory disorder. Mutations in PRF1, UNC13D, STX11, and STXBP2 are causative of FHL2, 3, 4, and 5, respectively. In a majority of suspected FHL patients from Northern Europe, sequencing of exons and splice sites of such genes required for lymphocyte cytotoxicity revealed no or only monoallelic UNC13D mutations. Here, in 21 patients, we describe 2 pathogenic, noncoding aberrations of UNC13D. The first is a point mutation localized in an evolutionarily conserved region of intron 1. This mu

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24

Young, I. D., and D. P. Duckett. "Familial cerebellar ataxia and possible cosegregation with an inversion in chromosome 4." Journal of Neurology, Neurosurgery & Psychiatry 53, no. 5 (1990): 441–42. http://dx.doi.org/10.1136/jnnp.53.5.441-a.

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25

Bown, N., I. Cross, E. V. Davison, and J. Burn. "Partial trisomy 20p resulting from a recombination of a familial pericentric inversion." Human Genetics 74, no. 4 (1986): 417–19. http://dx.doi.org/10.1007/bf00280496.

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26

Sutherland, Grant R., Andrew J. Gardiner, and Rodney F. Carter. "Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers." Clinical Genetics 10, no. 1 (2008): 54–59. http://dx.doi.org/10.1111/j.1399-0004.1976.tb00009.x.

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27

Luke, S., R. S. Verma, R. A. Conte, and T. Mathews. "Molecular characterization of the secondary constriction region (qh) of human chromosome 9 with pericentric inversion." Journal of Cell Science 103, no. 4 (1992): 919–23. http://dx.doi.org/10.1242/jcs.103.4.919.

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Pericentric inversion of the secondary constriction region (qh) of human chromosome 9 is a frequent occurrence. This structural alteration is regarded as a normal familial variant, termed heteromorphism, and is inherited in a Mendelian fashion without any apparent phenotypic consequences. We characterized the qh region of chromosome 9 from five individuals using a series of molecular cytogenetic techniques. Four out of the five individuals have an additional area composed of alphoid DNA sequences on the inverted chromosome 9 while one case was found to have an apparently intact alphoid DNA seq

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28

Ohnishi, Yoshitaka, Mariko Shigeto, Tatsuro Ishibashi, and Jouji Hirata. "Familial pericentric inversion of chromosome 11 in a child with sporadic unilateral retinoblastoma." Ophthalmic Paediatrics and Genetics 11, no. 4 (1990): 281–85. http://dx.doi.org/10.3109/13816819009015714.

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29

Concolino, D. "Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions." Journal of Medical Genetics 39, no. 3 (2002): 214–16. http://dx.doi.org/10.1136/jmg.39.3.214.

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30

Dutta, Usha R., Ingo Hansmann, and Dietmar Schlote. "Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature." European Journal of Medical Genetics 58, no. 3 (2015): 154–59. http://dx.doi.org/10.1016/j.ejmg.2015.01.001.

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31

Buchbinder, David Kyle, Touran Zadeh, and Diane Nugent. "A Patient With Familial Bone Marrow Failure and an Inversion of Chromosome 8." Journal of Pediatric Hematology/Oncology 33, no. 8 (2011): 626–27. http://dx.doi.org/10.1097/mph.0b013e31822f2fd4.

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32

Mayertchyk, Mariïa. "L'androgynie : inversion des sexes et des rôles dans les rituels du cycle familial." Ethnologie française 34, no. 2 (2004): 251. http://dx.doi.org/10.3917/ethn.042.0251.

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33

Briault, Sylvain, Sylvie Odent, Josette Lucas, et al. "Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome." American Journal of Medical Genetics 86, no. 2 (1999): 112–14. http://dx.doi.org/10.1002/(sici)1096-8628(19990910)86:2<112::aid-ajmg4>3.0.co;2-3.

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34

Spiegler, Stefanie, Matthias Rath, Sabine Hoffjan, et al. "First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing." neurogenetics 19, no. 1 (2017): 55–59. http://dx.doi.org/10.1007/s10048-017-0531-7.

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35

Peters-Slough, M. F., H. T. Planteydt, M. J. Timmerman, and M. J. V. D. Vooren. "A familial paracentric inversion in the short arm of chromosome 3: a case report." Clinical Genetics 22, no. 2 (2008): 102–4. http://dx.doi.org/10.1111/j.1399-0004.1982.tb01421.x.

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36

Kaiser, P., W. Forster, P. Steuernagel, U. Hillig, and K. P. Herberg. "Familial pericentric inversion (14)(p11;q24) with a rec dup(q) in one offspring." Clinical Genetics 26, no. 1 (2008): 73–76. http://dx.doi.org/10.1111/j.1399-0004.1984.tb00793.x.

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37

Neilan, Edward, Yana Pikman, and Virginia E. Kimonis. "Peters Anomaly in Association with Multiple Midline Anomalies and a Familial Chromosome 4 Inversion." Ophthalmic Genetics 27, no. 2 (2006): 63–65. http://dx.doi.org/10.1080/13816810600678139.

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38

de Chadarévian, Jean-Pierre, Stephen Dunn, J. Jeffrey Malatack, Arupa Ganguly, Uwe Blecker, and Hope H. Punnett. "Chromosome Rearrangement with No Apparent Gene Mutation in Familial Adenomatous Polyposis and Hepatocellular Neoplasia." Pediatric and Developmental Pathology 5, no. 1 (2002): 69–75. http://dx.doi.org/10.1007/s10024-001-0121-3.

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We have identified a constitutional inversion in chromosome 5 associated with familial adenomatous polyposis in three generations of a Mexican family. Two of three siblings developed hepatic neoplasia in infancy. The gene truncation assay failed to demonstrate a truncated protein in the segment harboring the adenomatous polyposis coli (APC) genes. Polymerase chain reaction (PCR) amplification of APC gene coding exons and sequencing of PCR products did not reveal any significant mutation. The data suggest that in this family, the phenotype may be the result of a “position effect.”

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39

Meschede, D., U. G. Froster, M. Bergmann, and E. Nieschlag. "Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest." Journal of Medical Genetics 31, no. 7 (1994): 573–75. http://dx.doi.org/10.1136/jmg.31.7.573.

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40

Goodart, Sheryl A., Merlin G. Butler, and Joan Overhauser. "Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome." Human Genetics 97, no. 6 (1996): 802–7. http://dx.doi.org/10.1007/s004390050140.

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41

Goodart, Sheryl A., Merlin G. Butler, and Joan Overhauser. "Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome." Human Genetics 97, no. 6 (1996): 802–7. http://dx.doi.org/10.1007/bf02346193.

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42

Bui, The-Hung, Zhang Sichong, and Isabel Castro. "A familial pericentric inversion of chromosome 8 analysed with a high resolution chromosome banding technique." Clinical Genetics 21, no. 4 (2008): 266–70. http://dx.doi.org/10.1111/j.1399-0004.1982.tb00761.x.

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43

Tardy, Erika P., András Tóth, and György Kosztolányi. "Prenatal Exclusion of Segmental Trisomy in Familial Chromosome 21 Pericentric Inversion by Fluorescencein situ Hybridization." Prenatal Diagnosis 17, no. 9 (1997): 871–73. http://dx.doi.org/10.1002/(sici)1097-0223(199709)17:9<871::aid-pd140>3.0.co;2-3.

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44

Beemer, F. A., H. F. de France, I. J. M. Rosina-Angelista, L. J. Gerards, B. P. Cats, and R. Guyt. "Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333)." Clinical Genetics 26, no. 3 (2008): 209–15. http://dx.doi.org/10.1111/j.1399-0004.1984.tb04369.x.

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45

Watt, J. L., I. A. Olson, A. W. Johnston, H. S. Ross, D. A. Couzin, and G. S. Stephen. "A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome." Journal of Medical Genetics 22, no. 4 (1985): 283–87. http://dx.doi.org/10.1136/jmg.22.4.283.

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46

Goi, Kumiko, Kanji Sugita, Makoto Nakamura, et al. "Development of Acute Lymphoblastic Leukemia with Translocation (4;11) in a Young Girl with Familial Pericentric Inversion 12." Cancer Genetics and Cytogenetics 110, no. 2 (1999): 124–27. http://dx.doi.org/10.1016/s0165-4608(98)00203-9.

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47

Ramos, M. L. Martı́n, E. Barreiro, J. López-Pérez, J. J. González-Aguilera, and M. A. Fernández-Peralta. "Acute Megakaryoblastic Leukemia in a Patient with a Familial Pericentric Inversion of Chromosome 8, inv(8)(p23.1q13)." Cancer Genetics and Cytogenetics 105, no. 1 (1998): 74–78. http://dx.doi.org/10.1016/s0165-4608(97)00478-0.

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48

Prabhakara, K., Damien L. Bruno, Priya Padman, et al. "Prenatal detection of deletion–duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion." Prenatal Diagnosis 28, no. 5 (2008): 466–68. http://dx.doi.org/10.1002/pd.2005.

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49

Kingston, H. M., D. H. Ledbetter, P. I. Tomlin, and K. L. Gaunt. "Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation." Journal of Medical Genetics 33, no. 1 (1996): 69–72. http://dx.doi.org/10.1136/jmg.33.1.69.

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50

Cingöz, S., B. Özkan, H. Döneray та M. Sakızlı. "Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11β-hydroxylase deficiency". Journal of Endocrinological Investigation 30, № 4 (2007): 285–91. http://dx.doi.org/10.1007/bf03346295.

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