De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy.
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.
Habecker-Green
J
J
Department of Obstetrics and Gynecology, Baystate Medical Center, Springfield, Massachusetts 01199, USA.
Naeem
R
R
Scott
R M
RM
Kanaan
C
C
Bayer-Zwirello
L
L
Cohn
G
G
D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004413:Dysostoses / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*; D014310:Triplets