Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

Menten, Björn; Buysse, Karen; Vandesompele, Jo; De Smet, Els; De Paepe, Anne; Speleman, Frank; Mortier, Geert

doi:10.1016/J.EJMG.2005.04.014

Title

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

Author

Menten, Björn

Buysse, Karen

Vandesompele, Jo

De Smet, Els

De Paepe, Anne

Speleman, Frank

Mortier, Geert

Abstract

Screening of a large series of patients with unexplained mental retardation with a 1 Mb BAC array resulted in the detection of several cryptic chromosomal imbalances. In this paper we present the findings of array CGH screening in a 14-year-old boy with the brachytelephalangic type of chondrodysplasia punctata, mental retardation and obesity. On several occasions, cytogenetic analysis of this boy revealed a normal karyotype. Subsequent screening with array CGH resulted in the detection of a distal 9p trisomy and distal Xp nullisomy caused by an unbalanced X;9 translocation: 46,Y,der(X)t(X;9)(p22.32;p23). The identification of this de novo chromosomal rearrangement not only made accurate genetic counselling possible but also explained most of the phenotypic abnormalities observed in this patient. This study confirms the power of array CGH in the detection of subtle or submicroscopic chromosomal changes.

Language

English

Source (journal)

European journal of medical genetics. - Paris

Publication

Paris : 2005

ISSN

1769-7212

DOI

10.1016/J.EJMG.2005.04.014

Volume/pages

48 :3 (2005) , p. 301-309