TY - JOUR
T1 - Sonographic and DNA-based prenatal detection of Gorlin syndrome
AU - Petrikovsky, Boris M.
AU - Bialer, Martin G.
AU - McLaughlin, Julie A.
AU - Bale, Allen E.
PY - 1996/6
Y1 - 1996/6
N2 - Gorlin syndrome is an autosomal dominant disorder consisting of craniofacial and skeletal abnormalities as well as a predisposition to basal cell nevi of the skin, medulloblastomas, jaw cysts, and occasionally mild mental retardation. The syndrome has full penetrance, and advanced paternal age is a risk factor for new mutations. The gene for Gorlin syndrome recently was localized on chromosome 9 (9q). We report prenatal diagnoses of Gorlin syndrome in two fetuses in the same family.
AB - Gorlin syndrome is an autosomal dominant disorder consisting of craniofacial and skeletal abnormalities as well as a predisposition to basal cell nevi of the skin, medulloblastomas, jaw cysts, and occasionally mild mental retardation. The syndrome has full penetrance, and advanced paternal age is a risk factor for new mutations. The gene for Gorlin syndrome recently was localized on chromosome 9 (9q). We report prenatal diagnoses of Gorlin syndrome in two fetuses in the same family.
UR - http://www.scopus.com/inward/record.url?scp=0030175703&partnerID=8YFLogxK
U2 - 10.7863/jum.1996.15.6.493
DO - 10.7863/jum.1996.15.6.493
M3 - Article
C2 - 8738998
AN - SCOPUS:0030175703
SN - 0278-4297
VL - 15
SP - 493
EP - 495
JO - Journal of Ultrasound in Medicine
JF - Journal of Ultrasound in Medicine
IS - 6
ER -