Literature DB >> 15337473

A familial complex chromosome translocation resulting in duplication of 6p25.

J R Vermeesch1, R Thoelen, Jean Pierre Fryns.   

Abstract

We report on a girl with psychomotor retardation, severe speech developmental delay and mild dysmorphic features. Molecular cytogenetic analysis showed that the patient was carrier of an insertion (6)(p22.5-->22.4) in chromosome 12. Analysis of the chromosomes of the mother revealed the presence of a complex chromosomal rearrangement. In addition to the insertion (6)(p22.5-->22.4) in chromosome 12 and a pericentric inversion in chromosome 12, the 6p subtelomeric region was absent in the mother. This is, to our knowledge, the smallest pure duplication of chromosome 6p as well as the smallest cryptic subtelomeric 6pter deletion thus far reported.

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Year:  2004        PMID： 15337473     DOI： 10.1016/j.anngen.2004.03.002

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  4 in total

1.  Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.

Authors:  Ilária C Sgardioli; Matheus de Mello Copelli; Fabíola P Monteiro; Ana P Dos Santos; Elaine Lustosa Mendes; Társis Paiva Vieira; Vera L Gil-da-Silva-Lopes
Journal:  Mol Syndromol       Date:  2017-06-24

2.  Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

Authors:  Beata A Nowakowska; Nicole de Leeuw; Claudia Al Ruivenkamp; Birgit Sikkema-Raddatz; John A Crolla; Reinhilde Thoelen; Marije Koopmans; Nicolette den Hollander; Arie van Haeringen; Anne-Marie van der Kevie-Kersemaekers; Rolph Pfundt; Hanneke Mieloo; Ton van Essen; Bert B A de Vries; Andrew Green; Willie Reardon; Jean-Pierre Fryns; Joris R Vermeesch
Journal:  Eur J Hum Genet       Date:  2011-09-14       Impact factor: 4.246

3.  The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Authors:  Camille Leroy; Emilie Landais; Sylvain Briault; Albert David; Olivier Tassy; Nicolas Gruchy; Bruno Delobel; Marie-José Grégoire; Bruno Leheup; Laurence Taine; Didier Lacombe; Marie-Ange Delrue; Annick Toutain; Agathe Paubel; Francine Mugneret; Christel Thauvin-Robinet; Stéphanie Arpin; Cedric Le Caignec; Philippe Jonveaux; Mylène Beri; Nathalie Leporrier; Jacques Motte; Caroline Fiquet; Olivier Brichet; Monique Mozelle-Nivoix; Pascal Sabouraud; Nathalie Golovkine; Nathalie Bednarek; Dominique Gaillard; Martine Doco-Fenzy
Journal:  Eur J Hum Genet       Date:  2012-10-17       Impact factor: 4.246

4.  Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

Authors:  Zhongxia Qi; Linda Jo Bone Jeng; Anne Slavotinek; Jingwei Yu
Journal:  BMC Med Genomics       Date:  2015-07-15       Impact factor: 3.063
  4 in total

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