✦ LIBER ✦

DiGeorge anomaly associated with 10p deletion

✍ Scribed by Monaco, Giuseppe ;Pignata, Claudio ;Rossi, Elena ;Mascellaro, Ornella ;Cocozza, Sergio ;Ciccimarra, Filippo

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 207 KB
Volume: 39
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320390220

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of deletion 17p13 ass

Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly

✍ Greenberg, Frank ;Courtney, Kristine B. ;Wessels, Robert A. ;Huhta, James ;Carpe 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 1 views

A fetus, subsequently shown to have the deletion 17~13, was detected at 30 weeks' gestation because of multiple anomalies and polyhydramnios on ultrasonography . The fetus died and was born at 34 weeks of gestation. Pathologic examination showed intrauterine growth retardation, double outlet right

DiGeorge anomaly and chromosome 10p dele

DiGeorge anomaly and chromosome 10p deletions: One or two loci?

✍ Dasouki, Majed; Jurecic, Vesna; Phillips, John A.; Whitlock, James A.; Baldini, 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 2 views

We report on a patient with DiGeorge syndrome (DGS) phenotype or anomaly and an unbalanced translocation [45,XY,-10,-22, +der(10),t(10;22)(p13;q11)] resulting in monosomy of 10p13-pter and 22q11-pter. Because both regions involved in this rearrangement have been implicated in DGS, we performed a mol

Noncompaction is already known in DiGeor

Noncompaction is already known in DiGeorge anomaly from 22q11.2 deletion

✍ Claudia Stöllberger; Josef Finsterer 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 57 KB

4q35 deletion and 10p15 duplication asso

4q35 deletion and 10p15 duplication associated with immunodeficiency

✍ S. Cingoz; A.M. Bisgaard; I. Bache; T. Bryndorf; M. Kirchoff; W. Petersen; H.-H. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB 👁 1 views

Digeorge anomaly in an infant with delet

Digeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction

✍ El-Fouly, Mohamed H. ;Higgins, James V. ;Kapur, Saroj ;Sankey, Beverly J. ;Matis 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 470 KB

A term white girl presented with low birth weight, minor anomalies, and congenital

DiGeorge anomaly in a patient with isoch

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

✍ Ralph J. DeBerardinis; Livija Medne; Nancy B. Spinner; Elaine H. Zackai 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 1 views

## Abstract The DiGeorge anomaly (DGA) is an etiologically heterogeneous developmental field defect in which cardiovascular malformations, hypocalcemia, thymic hypoplasia, and characteristic dysmorphisms are major clinical features. The 22q11.2 deletion is the most common single etiology of DGA, al