DSpace

RI UFBA >
Instituto de Biologia >
Artigos Publicados em Periódicos (Biologia) >

Please use this identifier to cite or link to this item: http://repositorio.ufba.br/ri/handle/ri/13907

Title: Mosaic cri-du-chat syndrome in a girl with a mild phenotype
Other Titles: Journal of Applied Genetics
Authors: Moreira, Lilia Maria de Azevedo
Carvalho, Acácia Fernandes Lacerda de
Borja, Ana Lúcia Vieira de Freitas
Pinto, Paula Sanders Pereira
Silveira, Adriana
Freitas, Lucy Magalhães de
Falcão, Maria de Lourdes Lima
Keywords: CdCS;Mosaic cri-du-chat syndrome;Speech and learning disabilities
Issue Date: 2008
Abstract: We report on the clinical observation of a girl patient with few signs of cri-du-chat syndrome. The chromosomal analysis in lymphocyte culture showed 46,XX,del(5)(p15.3) in 38% of cells. Psychological tests revealed motor, perceptive and visual-spatial problems, as well as immaturity and emotional dependence. The phoniatric evaluation showed poor vocabulary, difficulty with repeating words or numbers in sequence, and better receptive than expressive language. The spectrographic measurements showed disturbance of fundamental frequency (F0) in vocal pronunciation. The anatomic findings of the laryngoscopic evaluation were normal, indicating that the voice and speech problems were functional disorders. The present case revealed moderate clinical signs and vocal disturbance associated with a low percentage of 5p-cells and the breakpoint at 5p15.3. The short terminal deletion with a possible loss of the critical region for cat-like cry and the presence of a normal cell line, explain the cry not so typical at birth (weak but not high-pitched), the intermediate values of F0, and the moderate mental retardation. This case is compared with other mosaic 5p-patients reported in the literature.
Description: p. 415-420
URI: http://repositorio.ufba.br/ri/handle/ri/13907
ISSN: 1234-1983
Appears in Collections:Artigos Publicados em Periódicos (Biologia)

Files in This Item:

File Description SizeFormat
art%3A10.1007%2FBF03195641.pdf174.89 kBAdobe PDFView/Open
View Statistics

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

    Universidade Federal da Bahia

Contate-nos. Saiba mais sobre o RI/UFBA