1. Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3
- Author
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Carlo Marcelis, Rolph Pfundt, Bart C.W. Kuipers, Bert B.A. de Vries, Nicole de Leeuw, and Anneke T. Vulto-van Silfhout
- Subjects
Male ,Candidate gene ,Prominent forehead ,Haploinsufficiency ,GPI-Linked Proteins ,Pathology and Forensic Medicine ,Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3] ,Genomic disorders and inherited multi-system disorders [IGMD 3] ,Intellectual Disability ,Intellectual disability ,medicine ,Humans ,Abnormalities, Multiple ,Short philtrum ,Dysmorphic facial features ,Genetics (clinical) ,Oligonucleotide Array Sequence Analysis ,Genetics ,business.industry ,Neuropeptides ,Infant ,General Medicine ,medicine.disease ,Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6] ,DNA-Binding Proteins ,Feeding problems ,Facial Asymmetry ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Chromosomes, Human, Pair 6 ,Female ,Syndactyly ,Anatomy ,Chromosome Deletion ,business ,Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6] ,Transcription Factors - Abstract
Item does not contain fulltext The clinical and molecular characterizations of two patients with a 1.4 Mb overlapping deletion in the 6p25.1p24.3 region are reported. In addition to the mild intellectual disability, they shared feeding problems in infancy and several dysmorphic facial features including a prominent forehead, almond-shaped eyes, a short philtrum, and low-set ears with square helices. The overlapping deleted region harbors six genes (RREB1, NRN1, CAGE1, LY86, SSR1, and F13A1), of which NRN1 and RREB1 are considered as candidate genes for the intellectual disability and the overlapping dysmorphism, respectively.
- Published
- 2013
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