Literature DB >> 16411200

Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

Céline Bonnet1, Christian Zix, Marie-José Grégoire, Karène Brochet, Mireille Duc, Florence Rousselet, Christophe Philippe, Philippe Jonveaux.   

Abstract

We report on a 6-year-old girl with developmental delay, tall stature, and obesity. G-banded chromosome analysis revealed mosaicism for one to three small de novo rings in 82% of peripheral lymphocytes. Fluorescence in situ hybridization (FISH) studies and metaphase comparative genomic hybridization (CGH) demonstrated that the rings were derived from 4q10-4q13. A higher resolution investigation was initiated using array-CGH analysis and revealed a gain of 11 adjacent clones spanning a 16 Mb region at 4q11-q13.2 and including the insulin-like growth factor binding protein 7 (IGFBP7) gene. This finding suggests that postnatal overgrowth observed in our patient might be related to a dosage effect of the IGFBP7 gene. 2006 Wiley-Liss, Inc.

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Year:  2006        PMID： 16411200     DOI： 10.1002/ajmg.a.31075

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  9 in total

1.  Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

Authors:  C Bonnet; M J Grégoire; K Brochet; E Raffo; B Leheup; P Jonveaux
Journal:  J Hum Genet       Date:  2006-08-10       Impact factor: 3.172

2.  Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.

Authors:  Peining Li; Pawel Pomianowski; Miriam S DiMaio; Joanne R Florio; Michael R Rossi; Bixia Xiang; Fang Xu; Hui Yang; Qian Geng; Jiansheng Xie; Maurice J Mahoney
Journal:  Am J Med Genet A       Date:  2011-06-10       Impact factor: 2.802

3.  Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

Authors:  Joanna Pietrzak; Kristin Mrasek; Ewa Obersztyn; Pawel Stankiewicz; Nadezda Kosyakova; Anja Weise; Sau Wai Cheung; Wei Wen Cai; Ferdinand von Eggeling; Tadeusz Mazurczak; Ewa Bocian; Thomas Liehr
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240

4.  Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.

Authors:  Majed J Dasouki; Erin L Youngs; Karine Hovanes
Journal:  Curr Genomics       Date:  2011-05       Impact factor: 2.236

5.  Serum IGFBP7 levels associate with insulin resistance and the risk of metabolic syndrome in a Chinese population.

Authors:  Yi Liu; Minliang Wu; Jie Ling; Libing Cai; Dandan Zhang; Harvest F Gu; Hao Wang; Yimin Zhu; Maode Lai
Journal:  Sci Rep       Date:  2015-05-18       Impact factor: 4.379

6.  Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report.

Authors:  Reza Mohammadi; Raheleh Taheri; Fatemeh Shahriyari; Farnaz Feiz; Zahra Mohammadi; Sadegh Shirian; Reza Raoofian; Abdorrasoul Malekpour; Reza Pazhoomand
Journal:  Int J Reprod Biomed       Date:  2021-06-23

7.  Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.

Authors:  Oleg A Shchelochkov; M Lance Cooper; Zhishuo Ou; Sandra Peacock; Svetlana A Yatsenko; Chester W Brown; Ping Fang; Pawel Stankiewicz; Sau Wai Cheung
Journal:  Mol Cytogenet       Date:  2008-07-25       Impact factor: 2.009

8.  Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome.

Authors:  Rajasekhar Moka; Kodandapani Sreelakshmi; Puthiya Mundyat Gopinath; Kapettu Satyamoorthy
Journal:  J Hum Reprod Sci       Date:  2013-04

Review 9.  A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Authors:  Roxana Popescu; Mihaela Grămescu; Lavinia Caba; Monica-Cristina Pânzaru; Lăcrămioara Butnariu; Elena Braha; Setalia Popa; Cristina Rusu; Georgeta Cardos; Monica Zeleniuc; Violeta Martiniuc; Cristina Gug; Luminiţa Păduraru; Maria Stamatin; Carmen C Diaconu; Eusebiu Vlad Gorduza
Journal:  Genes (Basel)       Date:  2021-12-07       Impact factor: 4.096
  9 in total

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