✦ LIBER ✦

Deletion of the long arm of chromosome 11, [del(11)(q23)]

✍ Scribed by Monteleone, Patricia L. ;Chen, Su-Chiung ;Nouri-Moghaddam, Soraya ;Blair, John D. ;Tietjens, Michael ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 1982
Tongue: English
Weight: 321 KB
Volume: 13
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320130312

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We report sporadic occurrence of deletion of the long arm of chromosome 11 (q23 ⇀ qter) in a male newborn infant with intrauterine growth retardation, craniofacial, cardiac, and orthopedic abnormalities and neonatal death but without genital abnormalities. This deletion is seen predominantly in females; here we emphasize the importance of an XX sex chromosome constitution as a factor determining phenotypic expression of and survival in the del(11q) syndrome. We also provide a description of the cardiovascular system from postmortem examination. The cardiac findings are similar to those of two previously autopsied cases and will assist in early clinical diagnosis of the 11q‐syndrome.

📜 SIMILAR VOLUMES

Partial deletion of the long arm of chro

Partial deletion of the long arm of chromosome 11 [del(11)(q23.3→qter)] with abnormal white matter

✍ Wardinsky, Terrance D. ;Weinberger, Ed ;Pagon, Roberta A. ;Clarren, Sterling K. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 396 KB

## Abstract A patient with partial deletion of the long arm of chromosome 11[del(11)(q23.3→qter)] had macrocephalic trigonocephaly, growth and mental retardation, congenital heart defect, and characteristic facial appearance familiar to that of 33 other reported patients with this deletion. Compute

Apparent late-onset Cockayne syndrome an

Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2))

✍ Fryns, J. P. ;Bulcke, J. ;Verdu, P. ;Carton, H. ;Kleczkowska, A. ;van den Berghe 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 242 KB 👁 2 views

Interstitial deletion of the long arm of

Interstitial deletion of the long arm of chromosome 10: Del(10)(q11.2q21)

✍ Holden, Jeanette J. A. ;MacDonald, E. Athen ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB 👁 1 views

Partial deletion of the long arm of chro

Partial deletion of the long arm of chromosome 11—prenatal diagnosis

✍ Chudley, Albert E. ;Pabello, Paulino D. ;Pinno, Ernest ;Cardoso, Ray 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 2 views

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