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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Veröffentlicht in:	Journal of applied genetics 2008-01, Vol.49 (4), p.415-420
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	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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