title: Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.
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.
authors.affiliation: Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.
authors.forename: Björn
authors.initials: B
authors.lastname: Menten
authors.forename: Karen
authors.initials: K
authors.lastname: Buysse
authors.forename: Jo
authors.initials: J
authors.lastname: Vandesompele
authors.forename: Els
authors.initials: E
authors.lastname: De Smet
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
authors.forename: Frank
authors.initials: F
authors.lastname: Speleman
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
mesh_terms: D000293:Adolescent; D002806:Chondrodysplasia Punctata / Q000175:diagnosis / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics*; D004247:DNA / Q000032:analysis; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods; D009765:Obesity / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics
chemical_list: D004247:DNA