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del5p/dup5q in a ‘cri du chat’ patient without parental chromosomal rearrangement

✍ Scribed by Ibrahim Akalin; Kanay Yararbas; Nursen Akgul; Elif Babaoglu; Guvem Gumus Akay; Sara Dyer; Nuket Yurur Kutlay; Hatice Ilgin Ruhi; Gulay Kog; Ajlan Tukun


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
205 KB
Volume
140A
Category
Article
ISSN
1552-4825

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📜 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

## 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