𝔖 Bobbio Scriptorium
✦   LIBER   ✦

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

✍ Scribed by Akira Nishimura; Yoko Hiraki; Hiroko Shimoda; Gen Nishimura; Hiromi Tadaki; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Naomichi Matsumoto


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
178 KB
Volume
152A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


De novo deletion 12q: Report of a patien
✍ Sathya, Pushpa; Tomkins, Darrell J.; Freeman, Viola; Paes, Bosco; Nowaczyk, Ma?g πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 18 KB πŸ‘ 2 views

We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmen