TY - JOUR
T1 - De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy
AU - Habecker-Green, Julia
AU - Naeem, Rizwan
AU - Michael Scott, R.
AU - Kanaan, Camille
AU - Bayer-Zwirello, Lucy
AU - Cohn, Gabriel
PY - 2000/9/18
Y1 - 2000/9/18
N2 - We describe a newborn boy one of triplets, whose karyotype was 46,XY,t(8;12)(q22;q21). Prenatal diagnosis of multiple craniofacial anomalies had been made. Following delivery, the patient was thought to exhibit findings consistent with a diagnosis of frontofacionasal dysostosis. We hypothesize that one of the break points of this translocation may involve a gene essential to craniofacial development. (C) 2000 Wiley-Liss, Inc.
AB - We describe a newborn boy one of triplets, whose karyotype was 46,XY,t(8;12)(q22;q21). Prenatal diagnosis of multiple craniofacial anomalies had been made. Following delivery, the patient was thought to exhibit findings consistent with a diagnosis of frontofacionasal dysostosis. We hypothesize that one of the break points of this translocation may involve a gene essential to craniofacial development. (C) 2000 Wiley-Liss, Inc.
KW - De novo translocation (8;12)
KW - Frontofacionasal dysostosis
KW - Frontofacionasal dysplasia
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U2 - 10.1002/1096-8628(20000918)94:3<179::AID-AJMG1>3.0.CO;2-N
DO - 10.1002/1096-8628(20000918)94:3<179::AID-AJMG1>3.0.CO;2-N
M3 - Article
C2 - 10995502
AN - SCOPUS:0034684021
SN - 1552-4825
VL - 94
SP - 179
EP - 183
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -