✦ LIBER ✦

Familial deletions of chromosome 22q11: The Leuven experience

✍ Scribed by Swillen, Ann; Devriendt, Koen; Vantrappen, Greet; Vogels, Annick; Rommel, Nathalie; Fryns, Jean-Pierre; Eyskens, Benedicte; Gewillig, Marc; Dumoulin, Monique

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 16 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981228)80:5<531::aid-ajmg20>3.0.co;2-l

No coin nor oath required. For personal study only.

📜 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 👁 1 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 👁 2 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

Frontonasal malformation and deletion of

Frontonasal malformation and deletion of 22q11

✍ Kirkpatrick, Susan J.; Pauli, Richard M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

In this Journal, Stratton and Payne [1997] described a child with frontonasal abnormality who was found to have a 22q11 deletion. Because this was the first time that the association of nasal bifidity and this deletion was recognized, causality could not be distinguished from coincidence, although t

Tricuspid atresia and 22q11 deletion

✍ Marino, Bruno; Digilio, Maria Cristina; Novelli, Giuseppe; Giannotti, Aldo; Dall 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

Tricuspid atresia has not been reported in 22q11 microdeletions causing DiGeorge and velo-cardio-facial syndromes. We investigated the prevalence of 22q11 hemizygosity in 26 children with tricuspid atresia. Fluorescent hybridization with the Sc11.1 probe demonstrated a 22q11 microdeletion in 2 patie

Low frequency of inherited deletions of

Low frequency of inherited deletions of 22q11

✍ Smith, A.; Robson, L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 5 KB 👁 2 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