title: Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features.
abstract: We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2 Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea.
authors.affiliation: Department of Pediatrics, Roskilde Hospital, Roskilde, Denmark. lineth@dadlnet.dk
authors.forename: Line T
authors.initials: LT
authors.lastname: Sehested
authors.forename: Rikke S
authors.initials: RS
authors.lastname: Møller
authors.forename: Iben
authors.initials: I
authors.lastname: Bache
authors.forename: Noemi B
authors.initials: NB
authors.lastname: Andersen
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ullmann
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D002478:Cells, Cultured; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial; D002897:Chromosomes, Human, Pair 7; D020732:Cytogenetic Analysis / Q000379:methods; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007805:Language Development Disorders / Q000235:genetics*; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D035781:Siblings
chemical_list: D004247:DNA