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 c...

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Bibliographic Details
Published in:European journal of medical genetics 2012-10, Vol.55 (10), p.564-567
Main Authors: Jelsig, Anne Marie, Brasch-Andersen, Charlotte, Kibæk, Maria, Fagerberg, Christina R
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
CASP14
Caspases - genetics
Chromosome Deletion
Chromosomes
Chromosomes, Human, Pair 19 - genetics
Eyebrows - abnormalities
Genetic Loci
Human
Humans
Hypertrichosis
Hypertrichosis - genetics
Intellectual Disability - genetics
Male
Medical Education
NOTCH3
Pair 19
Protruding front teeth
Tooth Abnormalities - genetics
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2012.06.009