title: Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases.
abstract: Patients with trisomy or tetrasomy of distal 15q show a recognizable overgrowth syndrome, whereas patients with a monosomy of 15q26 share some degree of pre- and postnatal growth retardation, but differ with respect to facial and skeletal dysmorphisms, congenital heart disease and intellectual development. By reviewing 16 cases with losses of 15q26 we found that the size of the deletion was also not a predictor of the breadth of the phenotypic spectrum, the severity of disease or prognosis of the patient. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, a few candidate genes for selected features such as proportional growth retardation and cardiac abnormalities have been identified. In 11 out of 16 patients with monosomy of distal 15q variable neurobehavioral phenotypes, including learning difficulties, seizures, attention-deficit-hyperactivity disorder, hearing loss and autism, have been found. We discuss clinical ramifications for cases with a loss of 15q26 detected by prenatal array-CGH.
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. M.Poot@umcutrecht.nl
authors.forename: Martin
authors.initials: M
authors.lastname: Poot
authors.forename: Annemarie A
authors.initials: AA
authors.lastname: Verrijn Stuart
authors.forename: Emma
authors.initials: E
authors.lastname: van Daalen
authors.forename: Andries
authors.initials: A
authors.lastname: van Iperen
authors.forename: Ellen
authors.initials: E
authors.lastname: van Binsbergen
authors.forename: Ron
authors.initials: R
authors.lastname: Hochstenbach
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009006:Monosomy; D010641:Phenotype
keywords: Autism; Growth hormone therapy; IGF-1R gene; Monosomy 15q26; Proportional growth retardation