Cryptic x; autosome translocation in a boy--delineation of the phenotype.

Abstract:

:Chromosome X-to-autosome translocations [t(X;A)] are rare rearrangements with an estimated occurrence of 1 to 3 per 10,000 live births. Occurrences of Xq duplications have been observed in male and female subjects in whom the X chromosome segment escapes inactivation and results in functional disomy. We report a case of X;6 translocation in a 7-year-old boy with severe mental retardation, hypotonia, and recurrent respiratory tract infections. High-resolution chromosome analyses (fluorescence in situ hybridization, multiplex ligation probe-dependent amplification, and whole-genome array) revealed a terminal duplication of chromosome X at q28-qter (approximately 3.246 Mb in size) involving gene MECP2 and a terminal deletion (approximately 1.89 Mb) with the breakpoint at 6q27. This is the second report of a boy with a cryptic unbalanced Xq-autosome translocation. This case increases our understanding of mental disability caused by terminal Xq duplication.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

Jezela-Stanek A,Ciara E,Juszczak M,Pelc M,Materna-Kiryluk A,Krajewska-Walasek M

doi

10.1016/j.pediatrneurol.2010.10.007

subject

Has Abstract

pub_date

2011-03-01 00:00:00

pages

221-4

issue

3

eissn

0887-8994

issn

1873-5150

pii

S0887-8994(10)00446-7

journal_volume

44

pub_type

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