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Cri-du-chat syndrome with an increased level of proline and threonine

✍ Scribed by K�hner, U. ;B�sse, M. ;Buchinger, G.

Publisher
Springer-Verlag
Year
1974
Weight
941 KB
Volume
117
Category
Article
ISSN
0044-2917

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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

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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