Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype-Reference-Cited by-同舟云学术

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype

Published:2005 Issue:1 Volume:135A Page:91-95
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

van Bever Yolande,Rooms Liesbeth,Laridon Annick,Reyniers Edwin,van Luijk Rob,Scheers Stefaan,Wauters Jan,Kooy R. Frank

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability

2. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies

3. Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances

4. Characterization of terminal chromosome anomalies using multisubtelomere FISH

5. Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

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