Trisomy 22 confirmed by fluorescent in situ hybridization.
We report on a newborn girl with multiple congenital anomalies, whose G-banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.
Stratton
R F
RF
Department of Pediatrics, University of Texas Health Science Center, San Antonio 78229.
DuPont
B R
BR
Mattern
V L
VL
Young
R S
RS
McCourt
J W
JW
Moore
C M
CM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D013771:Tetralogy of Fallot / Q000235:genetics; D014314:Trisomy