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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## 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
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