✦ LIBER ✦

Multiple congenital anomalies in a man with (X;6) translocation

✍ Scribed by Sivak, Louise E. ;Esbenshade, John ;Brothman, Arthur R. ;Issa, Bonnie ;Lemons, Richard S. ;Carey, John C.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 409 KB
Volume: 51
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320510103

No coin nor oath required. For personal study only.

✦ Synopsis

X;autosome translocations in humans, often associated with congenital anomalies or with gonadal dysgenesis syndromes, are informative for the study of X-linked gene expression and of the phenomenon of X chromosome inactivation. When such translocations occur in association with multiple congenital anomaly (MCA) syndromes, the observed phenotypes are not always attributable solely to disruption of specific genes, if X-inactivation spreads onto the translocated autosome, rendering some distal genes inactive. We report on a man with multiple congenital anomalies and a maternally inherited (X;6)(p22.1;~25) translocation. He has abnormalities not described in the Klinefelter or 6p deletion syndromes. His unique findings constitute a recognizable syndrome, which is likely caused by disomy for a region of Xp in conjunction with a partial 6p deletion.

📜 SIMILAR VOLUMES

X;6 translocation in a child with congen

X;6 translocation in a child with congenital acute lymphocytic leukemia

✍ Lisa A. Carney; Janet S. Kinney; Rodney R. Higgins; Arnold I. Freeman; Barbara K 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 401 KB 👁 2 views

XX-agonadism in a fetus with multiple co

XX-agonadism in a fetus with multiple congenital anomalies

✍ Woo, Hennie H.N. ;Lo, Ivan F.M. ;Tse, H.Y. ;Lam, Stephen T.S. ;Tang, C.H. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 1 views

## Abstract We report on an 18‐week gestation fetus with 46,XX karyotype, gonadal agenesis, meningo‐encephalocele, spina bifida, omphalocele, webbing of right upper limb, deformed right clavicle and right sided ribs, absent interventricular septum, hypoplastic aorta, hypoplastic spleen, and single

Multiple congenital anomalies in a fetus

Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism

✍ Nowaczyk, Malgorzata J.M.; Ramsay, Jennifer A.; Mohide, Patrick; Tomkins, Darrel 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 1 views

Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH)

Trisomy 22 in a liveborn infant with mul

Trisomy 22 in a liveborn infant with multiple congenital anomalies

✍ McPherson, Elspeth ;Stetka, Daniel G. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 381 KB 👁 2 views

We report on the third confirmed case of trisomy 22 in a liveborn infant. High-resolution banding studies ruled out translocations such as the relatively common t(11;22). The infant shared many manifestations with other reported cases of trisomy 22 (e.g., growth deficiency, microcephaly, micrognathi

A novel X-linked multiple congenital ano

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation

✍ Larissa V. Furtado; Pinar Bayrak-Toydemir; Becki Hulinsky; Kristy Damjanovich; J 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 1 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