Phenotypic and phoniatric findings in mosaic cri du chat syndrome.
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.
Romano
C
C
Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.
Ragusa
R M
RM
Scillato
F
F
Greco
D
D
Amato
G
G
Barletta
C
C
D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype; D013018:Sound Spectrography