Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.
Chromosome analysis of a male infant and his mother with Saethre-Chotzen syndrome demonstrated an apparently balanced translocation, t(2;7)(p23;p22). This association lends support to localization of the gene for Saethre-Chotzen syndrome to the 7p2 region and supports further involvement of gene(s) in the 7p22 region.
Reid
C S
CS
Division of Pediatric Genetics, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Camden.
McMorrow
L E
LE
McDonald-McGinn
D M
DM
Grace
K J
KJ
Ramos
F J
FJ
Zackai
E H
EH
Cohen
M M
MM
Jabs
E W
EW
D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic