𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome

✍ Scribed by Zankl, Andreas ;Addor, Marie-Claude ;Gaide, Anne-Claude ;Thonney, Francine ;Cousin, Pascal ;Schorderet, Daniel F. ;Gudinchet, Fran�ois ;Nenadov-Beck, Maja


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
151 KB
Volume
95
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Functional disomy for Xq22-q23 in a girl
✍ Ida, Tomoko ;Miharu, Norio ;Hayashitani, Michiko ;Shimokawa, Osamu ;Harada, Naok 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 190 KB 👁 1 views

A 5-year-old girl with developmental and growth retardation is reported with complex chromosome rearrangements consisting of a partial Xq deletion and an abnormal chromosome 3 with multiple breakpoints. GTG-banding, and multiplex and conventional FISH studies showed that a 6.6-Mb Xq22-q23 segment wa

Characterization of a de novo complex ch
✍ Ascensión Vera-Carbonell; Juan Antonio Bafalliu; Encarna Guillén-Navarro; Ariadn 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 378 KB 👁 2 views

## Abstract Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri‐du‐chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of

Characterization of a complex chromosoma
✍ Sreekantaiah, C.; Kronn, D.; Marinescu, R.C.; Goldin, B.; Overhauser, J. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

We report on the clinical, cytogenetic, and molecular cytogenetic findings in a 4-year-old girl who was evaluated for developmental delay and a catlike cry from birth. No other findings of cri-du-chat syndrome were present. Karyotype analysis demonstrated a de novo deletion and inverted duplication