A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth

Anne Marie Jelsig, Charlotte Brasch Andersen, Maria Kibæk, Christina R Fagerberg

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Abstrakt

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.
OriginalsprogEngelsk
TidsskriftEuropean Journal of Medical Genetics
Vol/bind55
Udgave nummer10
Sider (fra-til)564-7
Antal sider4
ISSN1769-7212
DOI
StatusUdgivet - 2012

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