Síndrome de cri du chat: Presentación de dos casos
2003; Elsevier BV; Volume: 66; Issue: 4 Linguagem: Inglês
ISSN
2524-177X
AutoresRebeca Alvarez Aubert, María del Carmen Chima Galán, Verónica Madrid Cedillo, Elvira Galvez Galicia, María del Refugio Rivera Vega, Alicia Cervantes Peredo,
Tópico(s)Chromosomal and Genetic Variations
ResumoThe majority of deletions of the short arm of chromosome 5 are associated with the cri du chat syndrome or monosomy 5p. Patients show phenotypic and cytogenetic variability. We report two male patients with delayed psychomotor development and phenotypic characteristics of cri du chat syndrome. Cytogenetic studies revealed a deletion of the short arm of chromosome 5 of different size in each patient. The clinical data in the patients correlate with the size and localization of the deleted segment, which coincides with reports in the literature. Although this syndrome is a well-characterized clinical entity, the clinical and cytogenetic diagnosis is sometimes difficult, requiring the use of molecular techniques.
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