RT Journal Article
SR Electronic
T1 De novo interstitial deletion del(1)(p21p32).
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 323
OP 327
DO 10.1136/jmg.16.4.323
VO 16
IS 4
A1 M Bene
A1 A Duca-Marinescu
A1 D Ioan
A1 C Maximilian
YR 1979
UL http://jmg.bmj.com/content/16/4/323.abstract
AB A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter).