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Phenotypic and phoniatric findings in mosaic cri du chat syndrome

✍ Scribed by Romano, Corrado ;Ragusa, Rosa Maria ;Scillato, Franco ;Greco, Donatella ;Amato, Giuseppe ;Barletta, Cosimo


Book ID
102701714
Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
548 KB
Volume
39
Category
Article
ISSN
0148-7299

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Characterization of a complex chromosoma
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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