title: A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.
abstract: We present a de novo 1.4 Mb deletion of chromosome 19p13.11-p13.12 in a 16 year old boy with intellectual disability, autistic features, microcephaly, hearing impairment, hypertrichosis, synophrys, protruding front teeth, and other dysmorphic features. By comparing our patient to reported cases with overlapping deletions, we have refined the minimal critical region of hypertrichosis, synophrys, and protruding front teeth to 305 kb, a region containing seven genes. CASP14, which is considered a good candidate gene for hypertrichosis, is not included in this region, questioning the causal relationship.
authors: Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, 5000 Odense C, Denmark.
authors: Anne Marie
authors: AM
authors: Jelsig
authors: Charlotte
authors: C
authors: Brasch-Andersen
authors: Maria
authors: M
authors: Kibæk
authors: Christina R
authors: CR
authors: Fagerberg
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D020169:Caspases / Q000235:genetics; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005138:Eyebrows / Q000002:abnormalities*; D056426:Genetic Loci; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014071:Tooth Abnormalities / Q000235:genetics*
chemical_list: C506446:CASP14 protein, human; D020169:Caspases