Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.
A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q24.3). The concurrence of these two abnormalities is a rare event and has not been reported previously.
Verma
R S
RS
Division of Genetics, Long Island College Hospital-SUNY Health Science Center at Brooklyn, NY 11201.
Conte
R A
RA
Pitter
J H
JH
Luke
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008831:Microcephaly / Q000235:genetics; D012303:Ring Chromosomes