✦ LIBER ✦

The syndrome of ring chromosome 12

✍ Scribed by Scribanu, Nina ;McCullars, Eva B. ;Baumiller, Robert C. ;Colon, Angel R. ;Kaye, Celia J.

Publisher: John Wiley and Sons
Year: 1980
Tongue: English
Weight: 318 KB
Volume: 5
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320050210

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ring chromosome 12

✍ Park, Jonathan P. ;Graham, John M. ;Andrews, Patricia A. ;Wurster-Hill, Doris H. 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 237 KB 👁 1 views

Ring chromosome 8 syndrome: Further char

Ring chromosome 8 syndrome: Further characterization

✍ Tonk, Vijay S.; Kukolich, Mary K.; Morgan, David; Khan, Ashraf; Jalal, Syed M. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

We describe two de novo cases of extra r(8) confirmed by fluorescent in situ hybridization (FISH). Based on these two and eight additional cases of extra r(8) confirmed by FISH, the phenotype is better documented. One of our patients had minor facial anomalies, near-normal growth, and neurological d

Two patients with ring chromosome 15 syn

Two patients with ring chromosome 15 syndrome

✍ Butler, Merlin G. ;Fogo, Agnes B. ;Fuchs, David A. ;Collins, Francis S. ;Dev, Vi 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 387 KB 👁 2 views

Pallister–Killian syndrome caused by mos

Pallister–Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p

✍ Alison Yeung; David Francis; Olivia Giouzeppos; David J. Amor 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 131 KB 👁 2 views

Variegated aneuploidy and ring chromosom

Variegated aneuploidy and ring chromosome syndromes overlap

✍ Horacio Rivera; María G. Domínguez 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB

Ring chromosome X in a child with manife

Ring chromosome X in a child with manifestations of Kabuki syndrome

✍ McGinniss, Matthew J.; Brown, David H.; Burke, Leah W.; Mascarello, James T.; Jo 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 341 KB 👁 2 views

A female patient with the karyotype 45,X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome-derived seque