๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

โœ Scribed by Sadayuki Nukina; Yasutaka Nishimura; Akihiko Kinugasa; Tadashi Sawada; Kenji Hamaoka; Johji Inazawa; Shoichiro Tsuda; Tatsuo Abe

Publisher
Nature Publishing Group
Year
1989
Tongue
English
Weight
721 KB
Volume
34
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Partial trisomy 17q22-qter and partial m
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter
โœ Sarri, C.; Gyftodimou, J.; Avramopoulos, D.; Grigoriadou, M.; Pedersen, W.; Pand ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 501 KB

Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Diffe