✦ LIBER ✦

Re-evaluation of the supernumerary chromosome in an individual with cat eye syndrome

✍ Scribed by Duncan, Alessandra M. V. ;Rosenfeld, Warren ;Verma, Ram S. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 345 KB
Volume: 27
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320270126

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Absence of λ immunoglobulin sequences on

Absence of λ immunoglobulin sequences on the supernumerary chromosome of the “cat eye” syndrome

✍ Hough, Christine A. ;White, Bradley N. ;Holden, Jeanette J. A. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 496 KB 👁 1 views

Partial trisomy of chromosome 22 resulti

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

✍ Valérie Bélien; Marion Gérard-Blanluet; Stéphane Serero; Nathalie Le Dû; Clariss 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 140 KB 👁 2 views

Rearrangement of chromosome 15 in the re

Rearrangement of chromosome 15 in the region q11.2→q12 in an individual with obesity syndrome and her normal mother

✍ Shohat, M. ;Shohat, T. ;Rimoin, D. L. ;Mohandas, T. ;Heckenlively, J. ;Magenis, 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 485 KB 👁 1 views

Unique case of deletion and duplication

Unique case of deletion and duplication in the long arm of the Y chromosome in an individual with ambiguous genitalia

✍ Thangaraj, Kumarasamy ;Subramanian, Subbaya ;Reddy, Alla G. ;Singh, Lalji 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 171 KB 👁 2 views

The Wolf-Hirschhorn syndrome in adulthoo

The Wolf-Hirschhorn syndrome in adulthood: Evaluation of a 24-year-old man with a rec(4) chromosome

✍ Ogle, Robert; Sillence, David O.; Merrick, Ann; Ell, Jonathan; Lo, Beehong; Robs 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 397 KB 👁 2 views

We describe a profoundly intellectually disabled 24-year-old man with Wolf-Hirschhorn syndrome, left hemiplegia, epilepsy, atrophy of the right cerebral hemisphere, and dilatation of the right ventricle. The patient had a small ventricular septa1 defect, was wheelchair bound, and totally dependent.

Ullrich-Turner syndrome in an XY female

Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome

✍ Blagowidow, Natalie ;Page, David C. ;Huff, Dale ;Mennuti, Michael T. 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 458 KB 👁 2 views

Here we describe a fetus in whom a cystic hygroma was detected by ultrasound during the second trimester. Autopsy demonstrated a female fetus with manifestations of Ullrich-Turner syndrome, including gonadal dysgenesis, generalized lymphedema, and preductal aortic coarctation. Surprisingly, the kary