Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome
✍ Scribed by Stéphanie Marignier; Gaetan Lesca; Jessica Marguin; Gérald Bussy; Damien Sanlaville; Vincent des Portes
- Book ID
- 116433482
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 424 KB
- Volume
- 55
- Category
- Article
- ISSN
- 1769-7212
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A 2-year-old boy with features suggestive of cri-du-chat syndrome had a complex karyotype: 45,XY,--22,5p--,t(5p:22q). Clinical symptoms were catlike cry in early infancy, severe mental and motor retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the eyelids, ep
## 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
The purpose of the present study was to investigate the cranial base on profile radiographs of patients with cri-du-chat syndrome and to relate the findings to current knowledge of brain malformation in an attempt to localize the developmental field affected in cri-du-chat syndrome. The material of