title: 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.
abstract: Submicroscopic deletion of the 6p subtelomere has recently been recognized as a clinically identifiable syndrome. A distinct phenotype has emerged consisting of developmental delay/mental retardation, language impairment, hearing loss, and ophthalmologic, cardiac, and craniofacial abnormalities, including hypertelorism, midface hypoplasia, small nose, and high arched palate. We describe here a patient with 6p subtelomere deletion associated with congenital glaucoma, severe mental retardation, and growth impairment. Fluorescent in situ hybridization analysis revealed only one 6p25.3 signal. Array comparative genomic hybridization assay showed 2.1 Mb deletion and 4.14 Mb duplication in the 6p25 region. Generally, developmental delay and language impairment are common findings in patients with 6p subtelomere deletion syndrome, but growth impairment is not. Compared to that, the present patient showed atypically severe developmental delay and growth impairment.
authors.affiliation: Department of Pediatrics, University of Yamanashi, Chuo, Japan. tnakane99@gmail.com
authors.forename: Takaya
authors.initials: T
authors.lastname: Nakane
authors.forename: Nakamura
authors.initials: N
authors.lastname: Kousuke
authors.forename: Hata
authors.initials: H
authors.lastname: Sonoko
authors.forename: Kamiya
authors.initials: K
authors.lastname: Yuko
authors.forename: Hidenori
authors.initials: H
authors.lastname: Sato
authors.forename: Takeo
authors.initials: T
authors.lastname: Kubota
authors.forename: Kanji
authors.initials: K
authors.lastname: Sugita
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D051858:Forkhead Transcription Factors / Q000235:genetics; D020131:Genes, Duplicate; D005901:Glaucoma / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D013577:Syndrome; D016615:Telomere / Q000235:genetics*; D055815:Young Adult
chemical_list: C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors