✦ LIBER ✦

Del(20p) with manifestations of arteriohepatic dysplasia

✍ Scribed by Byrne, J. L. B. ;Harrod, M. J. E. ;Friedman, J. M. ;Howard-Peebles, P. N. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1986
Tongue: English
Weight: 352 KB
Volume: 24
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320240411

No coin nor oath required. For personal study only.

✦ Synopsis

A small-for-gestational age white female infant was noted to have multiple minor anomalies and severe jejunal stenosis. Mild peripheral pulmonic stenosis, skeletal anomalies, and cholestasis with paucity of intrahepatic bile ducts were observed, and she was diagnosed as having

📜 SIMILAR VOLUMES

Alagille syndrome (arteriohepatic dyspla

Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

✍ Legius, Eric ;Fryns, Jean-Pierre ;Eyskens, Benedict ;Eggermont, Ephren ;Desmet, 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 430 KB

We report on a boy with Alagille syndrome. Chromosome analysis on a peripheral blood lymphocyte culture showed a de novo deletion of the short arm of chromosome 20 with a 46,XY,de1(20)(p11.2) chromosome constitution. This is the second report of a del(2Op) in a patient with Alagille syndrome. The po

Lethal bone dysplasia in a fetus with ma

Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia

✍ Greally, Marie T. ;Jewett, Tamison ;Smith, Wilbur L. ;Penick, George D. ;William 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 597 KB

HDR syndrome (hypoparathyroidism, sensor

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)

✍ Hasegawa, Tomonobu; Hasegawa, Yukihiro; Aso, Taiji; Koto, Shinobu; Nagai, Toshir 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 1 views

A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an autosomal dominant fashion; we name the condition ''HDR syndrome.'' We describe a Japanese girl who has HDR syndrome associated with de novo del(10)(p13). The chr

Misclassification risk of patients with

Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?

✍ Schulze, Birgit R. B. ;Tariverdian, Gholamali ;Komposch, Gerda ;Stellzig, Angeli 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 258 KB 👁 2 views

Inv dup del(4)(:p14 ? p16.3::p16.3 ? qte

Inv dup del(4)(:p14 ? p16.3::p16.3 ? qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome

✍ Kondoh, Yuki ;Toma, Takaya ;Ohashi, Hirofumi ;Harada, Naoki ;Yoshiura, Ko-ichiro 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB

Del(12)(p11.21p12.2) associated with an

Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome

✍ Nagai, Toshiro ;Nishimura, Gen ;Kato, Rumiko ;Hasegawa, Tomonobu ;Ohashi, Hirofu 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 283 KB 👁 1 views

## Abstract We describe a 5‐year‐old Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)‐chondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia,