Article
Phenotypic and phoniatric findings in mosaic cri du chat syndrome.
American journal of medical genetics - 15 Jun 1991
Romano C, Ragusa R M, Scillato F, Greco D, Amato G, Barletta C
Abstract excerpt
We report on mosaic 46,XY/46,XY,del(5)(p15) cri du chat syndrome. The clinical findings are compared with those compiled from a literature survey. A phoniatric evaluation was performed and compared with that of a cri du chat patient without mosaicism previously observed by the authors.
Topics
- Chromosome Deletion
- Chromosomes, Human, Pair 5
- Cri-du-Chat Syndrome
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Mosaicism
- Phenotype
- Sound Spectrography