✦ LIBER ✦

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

✍ Scribed by Bonnet, Damien; Cormier-Daire, Valérie; Kachaner, Jean; Szezepanski, Isabelle; Souillard, Patrick; Sidi, Daniel; Munnich, Arnold; Lyonnet, Stanislas

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 97 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970120)68:2<182::aid-ajmg12>3.0.co;2-q

No coin nor oath required. For personal study only.

✦ Synopsis

Cono-truncal cardiac malformations account for some 50% of congenital heart defects in newborn infants. Recently, hemizygosity for chromosome 22q11.2 was reported in patients with the DiGeorge/Velo-cardio-facial syndromes (DGS/VCFS) and causally related disorders. We have explored the potential use of microsatellite DNA markers for rapid detection of 22q11 deletions in 19 newborn infants referred for cono-truncal heart malformations with associated DGS/VCFS anomalies. A failure of parental inheritance was documented in 84.2% of cases (16/19). PCRbased genotyping using microsatellite DNA markers located within the commonly deleted region allowed us either to confirm or reject a 22q11 microdeletion in 94.3% of cases (18/19) within 24 hours. This test is now currently performed in the infants referred to us for a cono-truncal heart malformation as a first intention screening for 22q11 microdeletion.

📜 SIMILAR VOLUMES

Familial deletions of chromosome 22q11

✍ Digilio, Maria Cristina; Marino, Bruno; Giannotti, Aldo; Dallapiccola, Bruno 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

We read with interest the paper by Leana-Cox et al. [1996] which reported on 5 families with recurrent Di-George/velocardiofacial syndrome and deletions of chromosome 22q11 (del22q11), and which reviewed the pertinent literature. The authors observed that up to 25% of del22q11 are inherited. Particu

Deletion of chromosome 22q11 and pseudoh

Deletion of chromosome 22q11 and pseudohypoparathyroidism

✍ Craigen, William J.; Lindsay, Elizabeth A.; Bricker, J. Timothy; Hawkins, Edith 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 5 KB 👁 3 views

A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, cons

Familial deletions of chromosome 22q11:

Familial deletions of chromosome 22q11: The Leuven experience

✍ Swillen, Ann; Devriendt, Koen; Vantrappen, Greet; Vogels, Annick; Rommel, Nathal 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

Kousseff syndrome caused by deletion of

Kousseff syndrome caused by deletion of chromosome 22q11-13

✍ Forrester, Shawnia ;Kovach, Margaret J. ;Smith, Randell E. ;Rimer, Lisa ;Wesson, 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 1 views

Letter. Prenatal detection of a deletion

Letter. Prenatal detection of a deletion 22q11 by FISH

✍ J. Garcia-Heras; P. N. Rao; R. W. Stettler; M. Huslig; Ruth Lanigan Smart; M. J. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 83 KB 👁 1 views

Enlarged sylvian fissures in infants wit

Enlarged sylvian fissures in infants with interstitial deletion of chromosome 22q11

✍ Bingham, Peter M.; Zimmerman, Robert A.; McDonald-McGinn, Donna; Driscoll, Debor 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

Two infants with chromosome 22q11 deletion syndrome were noted to have symmetrically enlarged Sylvian fissures on cranial MRI. We compared the size of the Sylvian fissures in neuroimaging studies from 17 other subjects with del 22q11 to agematched disease controls. The mean anterior interopercular d