✦ LIBER ✦

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

✍ Scribed by Bingham, Peter M.; Zimmerman, Robert A.; McDonald-McGinn, Donna; Driscoll, Deborah; Emanuel, Beverly S.; Zackai, Elaine

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 37 KB
Volume: 74
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970919)74:5<538::aid-ajmg17>3.0.co;2-d

No coin nor oath required. For personal study only.

✦ Synopsis

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 distance was used as an index of Sylvian fissure enlargement. Symmetric enlargement of the Sylvian fissures was present in 10 of 17 subjects with del 22q11. The age-incidence pattern, as well as follow-up scans in 2 patients, suggests delayed growth of the opercular region in these patients. Subjects with del 22q11 consistently had disproportionate enlargement of the left Sylvian fissure compared to the right. This observation suggests that a gene (or genes) in the deleted region affects the development of the left and right perisylvian cortex in different ways. Abnormal development of the operculum may explain some of the neurodevelopmental features that are common among individuals with 22q11 deletion syndrome.

📜 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 👁 1 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

22q11 deletion syndrome in adults with s

22q11 deletion syndrome in adults with schizophrenia

✍ Bassett, Anne S.; Hodgkinson, Kathy; Chow, Eva W.C.; Correia, Susana; Scutt, Lau 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB 👁 2 views

Genetic syndromes associated with deletions at chromosome 22q11 generally have been diagnosed during childhood based on a constellation of physical features. To investigate a reported association of velocardiofacial syndrome with psychotic disorders in adults, we assessed subjects with DSM-IV schizo

Chromosome 22q11.2 interstitial deletion

Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and ?multidimensionally impaired?

✍ Yan, WenLiang; Jacobsen, Leslie K.; Krasnewich, Donna M.; Guan, Xin-Yuan; Lenane 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB

Since its first description almost a century ago schizophrenia with childhood onset, a rare yet devastating disorder, has been diagnosed in children as young as age 5. Recently, the velocardiofacial syndrome, whose underlying cause is interstitial deletions of 22q11.2, was found in 2 of 100 cases of

Deletion of 22q11 in two brothers with d

Deletion of 22q11 in two brothers with different phenotype

✍ Kasprzak, Lidia; Der Kaloustian, Vazken M.; Elliott, Alison M.; Shevell, Michael 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowled