Literature DB >> 17174164

An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype.

Iris Bartels1, Heike Starke, Loukas Argyriou, Simone M Sauter, Barbara Zoll, Thomas Liehr.   

Abstract

A 27-year-old man was referred for chromosome analysis due to infertility caused by azoospermia. Chromosome analysis by conventional karyotyping, multicolour FISH (M-FISH) and multicolour banding (MCB) analysis revealed an apparently balanced translocation between chromosomes 1, 3, 9 and 14 as well as an additional inverted insertion of 3q material with a total of eight breakpoints. Due to the diversity of theoretically unbalanced products of meiotic recombination in this exceptional complex chromosomal rearrangement a successful result of assisted reproduction seems unlikely.

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Year:  2006        PMID: 17174164     DOI: 10.1016/j.ejmg.2006.10.007

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  15 in total

1.  A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences.

Authors:  Natalia Trpchevska; Ivanka Dimova; Tatyana Arabadji; Tanya Milachich; Svetlana Angelova; Magdalena Dimitrova; Mariela Hristova-Savova; Petya Andreeva; Tania Timeva; Atanas Shterev
Journal:  J Assist Reprod Genet       Date:  2017-02-24       Impact factor: 3.412

Review 2.  Constitutional complex chromosomal rearrangements in a klinefelter patient: case report and review of literature.

Authors:  F Mahjoubi; F Razazian
Journal:  J Assist Reprod Genet       Date:  2012-03-01       Impact factor: 3.412

3.  A novel male 2;4;14 complex chromosomal translocation with normal semen parameters but 100% embryonic aneuploidy.

Authors:  Jade Mas; Reem Sabouni; Silvina Bocca
Journal:  J Assist Reprod Genet       Date:  2018-01-29       Impact factor: 3.412

4.  Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH.

Authors:  Chiara Donatella Viaggi; Simona Cavani; Mauro Pierluigi; Vincenzo Antona; Ettore Piro; Giovanni Corsello; Massimo Mogni; Maria Piccione; Michela Malacarne
Journal:  J Appl Genet       Date:  2012-04-29       Impact factor: 3.240

5.  Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey.

Authors:  M Balkan; S Tekes; A Gedik
Journal:  J Assist Reprod Genet       Date:  2008-10-25       Impact factor: 3.412

6.  Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report.

Authors:  Paula Jp de Vree; Marleen Eh Simon; Marieke F van Dooren; Gerda Ht Stoevelaar; José Tw Hilkmann; Michel A Rongen; Gido Cm Huijbregts; Annemieke Jmh Verkerk; Pino J Poddighe
Journal:  Mol Cytogenet       Date:  2009-07-13       Impact factor: 2.009

7.  Complex chromosomal rearrangement involving chromosomes 1, 4 and 22 in an infertile male: case report and literature review.

Authors:  I Salahshourifar; N Shahrokhshahi; T Tavakolzadeh; Z Beheshti; H Gourabi
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

8.  Exceptional complex chromosomal rearrangements in three generations.

Authors:  Hannie Kartapradja; Nanis Sacharina Marzuki; Mark D Pertile; David Francis; Lita Putri Suciati; Helena Woro Anggaratri; Debby Dwi Ambarwati; Firman Prathama Idris; Harry Lesmana; Hidayat Trimarsanto; Chrysantine Paramayuda; Alida Roswita Harahap
Journal:  Case Rep Genet       Date:  2015-02-03

9.  Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures.

Authors:  Ewelina Lazarczyk; Malgorzata Drozniewska; Magdalena Pasinska; Beata Stasiewicz-Jarocka; Alina T Midro; Olga Haus
Journal:  Mol Cytogenet       Date:  2014-11-19       Impact factor: 2.009

10.  Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.

Authors:  L E L M Vissers; P Stankiewicz; S A Yatsenko; E Crawford; H Creswick; V K Proud; B B A de Vries; R Pfundt; C L M Marcelis; J Zackowski; W Bi; A Geurts van Kessel; J R Lupski; J A Veltman
Journal:  Hum Genet       Date:  2007-04-25       Impact factor: 4.132

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