## 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
✦ LIBER ✦
Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia
✍ Scribed by Chang Y. Tsao; Gail D. Wenger; Dennis W. Bartholomew
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 99 KB
- Volume
- 134A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
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