𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Distal deletion of chromosome 13 in a child with the “Opitz” GBBB syndrome

✍ Scribed by Urioste, Miguel ;Arroyo, Ignacio ;Villa, Amelia ;Lorda-Sánchez, Isabel ;Barrio, Raquel ;López-Cuesta, María-Jesús ;Rueda, Javier

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
618 KB
Volume
59
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

ECEMC a n d H o s p i t a l Universitario S a n C a r l o s ( M . U . ) ; ECEMC ( A . V . , I.L.-S.);

Facul t a d d e M e d i c i n a , U n i v e r s i d a d C o m p l u t e n s e , M a d r i d ; S e c c i 6 n d e N e o n a t o l o g f a ( I . A . , R . B . , M -J . L -C . ) , H o s p i t a l S a n P e d r o d e A l c a ' n t a r a , C a ' c e r e s ; Centro d e

A t e n c i 6 n T e m p r a n a CEOPS ( J . R . ) , M a d r i d , S p a i n .

📜 SIMILAR VOLUMES

Deletion of the distal long arm of chrom
Deletion of the distal long arm of chromosome 1: A definable syndrome
✍ Johnson, Virginia P. ;Heck, Louis J. ;Carter, Guy A. ;Flom, Jon O. ;Opitz, John 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 633 KB

Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations that would allow clinical delineation of deletion of the distal bands of lq. Characteristic manifestations include round face with prominent "cupid's bow" and downturned corn

Chromosome 22q11.2 deletion in a boy wit
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome
✍ Fryburg, Julie S.; Lin, Kant Y.; Golden, Wendy L. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

This report is on a 14-month-old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested because of some findings in this patient reminiscent of velocardiofacial (VCF) syndrome. The extent of aspiration and of respiratory symptoms in th