PL EN


Preferences help
enabled [disable] Abstract
Number of results
2008 | 49 | 4 | 415-420
Article title

Mosaic cri-du-chat syndrome in a girl with a mild phenotype

Content
Title variants
Languages of publication
EN
Abstracts
EN
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.
Discipline
Year
Volume
49
Issue
4
Pages
415-420
Physical description
References
Document Type
ARTICLE
Publication order reference
Lilia Maria de Azevedo Moreira, Rua da Paz 257, Ed. Palmares, ap. 201, Graca, CEP 40150-140, Salvador-Bahia, Brazil
YADDA identifier
bwmeta1.element.element-from-psjc-4cbc3e4d-d8ea-398d-9bf1-1429f51be173
Identifiers
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.