title: Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.
abstract: We report on an 8(1)/(2)-year-old girl with severe pre- and postnatal growth retardation, congenital heart malformation, facial asymmetry, oculocutaneous albinism without misrouting and subluxation of the radial heads. Her intelligence was in the low normal range. By GTG-banding a deletion of band 15q26 was found. Array-CGH, using a 3783 BAC array, revealed a segmental monosomy of the 15(q26.2-->qter) region, which was narrowed down to a 6.87Mb deletion by using the Illumina Infinium 317 K SNP array system, and subsequently confirmed by fluorescence in situ hybridisation (FISH) analysis. The deletion appeared to have arisen de novo. The IGF1R (insulin-like growth factor 1 receptor) and the NR2F2 genes were situated within, but the OCA2 (oculocutaneous albinism II) gene (formerly called the P gene) was located outside the deleted region. Clinical findings in our patient were compared with previously reported cases carrying terminal deletions of 15q26.2. This allowed us to expand the clinical phenotype of terminal 15q26.2 deletions and to indicate candidate genes for several phenotypic features.
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Mail stop: KC.04.084.2, P.O. Box 85090, 3508 AB Utrecht, The Netherlands. m.poot@umcutrecht.nl
authors.forename: Martin
authors.initials: M
authors.lastname: Poot
authors.forename: Marc J
authors.initials: MJ
authors.lastname: Eleveld
authors.forename: Ruben
authors.initials: R
authors.lastname: van 't Slot
authors.forename: Maria M
authors.initials: MM
authors.lastname: van Genderen
authors.forename: Annemarie A
authors.initials: AA
authors.lastname: Verrijn Stuart
authors.forename: Ron
authors.initials: R
authors.lastname: Hochstenbach
authors.forename: Frits A
authors.initials: FA
authors.lastname: Beemer
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics* / Q000473:pathology; D051837:COUP Transcription Factor II / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D026901:Membrane Transport Proteins / Q000235:genetics; D017451:Receptors, Somatomedin / Q000235:genetics
chemical_list: D051837:COUP Transcription Factor II; D026901:Membrane Transport Proteins; D017451:Receptors, Somatomedin; C489600:OCA2 protein, human; C095569:NR2F2 protein, human