Literature DB >> 12599183

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.

C Battisti1, M C Bonaglia, S Giglio, C Anichini, L Pucci, M T Dotti, O Zuffardi, A Federico.   

Abstract

A de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints. Copyright 2003 Wiley-Liss, Inc.

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Year:  2003        PMID： 12599183     DOI： 10.1002/ajmg.a.10149

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


  3 in total

1.  Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Authors:  Katarzyna Borg; Paweł Stankiewicz; Ewa Bocian; Anna Kruczek; Ewa Obersztyn; James R Lupski; Tadeusz Mazurczak
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

2.  Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Authors:  M De Gregori; R Ciccone; P Magini; T Pramparo; S Gimelli; J Messa; F Novara; A Vetro; E Rossi; P Maraschio; M C Bonaglia; C Anichini; G B Ferrero; M Silengo; E Fazzi; A Zatterale; R Fischetto; C Previderé; S Belli; A Turci; G Calabrese; F Bernardi; E Meneghelli; M Riegel; M Rocchi; S Guerneri; F Lalatta; L Zelante; C Romano; M Fichera; T Mattina; G Arrigo; M Zollino; S Giglio; F Lonardo; A Bonfante; A Ferlini; F Cifuentes; H Van Esch; L Backx; A Schinzel; J R Vermeesch; O Zuffardi
Journal:  J Med Genet       Date:  2007-08-31       Impact factor: 6.318

3.  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
  3 in total

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