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

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 d...

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Published in:Journal of applied genetics 2008-01, Vol.49 (4), p.415-420
Main Authors: Moreira, Lilia Maria de Azevedo, de Carvalho, Acácia Fernandes Lacerda, Borja, Ana Lúcia Vieira de Freitas, Pinto, Paula Sanders Pereira, Silveira, Adriana, de Freitas, Lucy Magalhães, Falcão, Maria de Lourdes Lima
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Biomedical and Life Sciences
Case Report
Child
Chromosome Deletion
Chromosomes, Human, Pair 5
Cri-du-Chat Syndrome - genetics
Developmental Disabilities - genetics
Female
Human Genetics
Humans
Intellectual Disability - genetics
Karyotyping
Life Sciences
Microbial Genetics and Genomics
Phenotype
Plant Genetics and Genomics
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Summary: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 (F 0 ) 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 F 0 , and the moderate mental retardation. This case is compared with other mosaic 5p-patients reported in the literature.
ISSN:1234-1983
2190-3883
DOI:10.1007/BF03195641