✦ LIBER ✦

Multiple congenital anomalies, mental retardation and hypogonadotropic hypogonadism in a boy with small marker chromosomes

✍ Scribed by Copeland, Kenneth C. ;Hansen, Kathryn ;Moore, Charleen M. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1985
Tongue: English
Weight: 348 KB
Volume: 20
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320200406

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Multiple “marker” chromosomes: A novel c

Multiple “marker” chromosomes: A novel cytogenetic finding in a patient with mental retardation and congenital anomalies

✍ Tozzi, C. ;Calvieri, F. ;Alesi, L. ;Neri, G. ;Optiz, John M. ;Reynolds, James F. 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 422 KB 👁 2 views

Congenital hypoplastic anaemia in a pati

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

✍ Mori, Pier Giorgio; Priolo, Manuela; Lerone, Margherita; Pasino, Mirella; Caroli 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingerna

Proximal chromosome 8q deletion in a boy

Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies

✍ Asamoah, Alexnder ;Nwankwo, Martin ;Kumar, Savitri P. ;Ezhuthachan, Sudhakar G. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 182 KB 👁 2 views

Proximal chromosome 8q deletion in a boy

Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies

✍ Alexander Asamoah 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 57 KB 👁 2 views

A novel multiple congenital anomaly–ment

A novel multiple congenital anomaly–mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters

✍ David A. Stevenson; John C. Carey 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 244 KB 👁 1 views

Deletion of the CUL4B gene in a boy with

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

✍ Bertrand Isidor; Olivier Pichon; Sabine Baron; Albert David; Cédric Le Caignec 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 213 KB 👁 1 views