Álvarez AR, Chima GMC, Madrid CV, Gálvez GE, Rivera VMR Cervantes PA

Language: Spanish
References: 22
Page: 212-217
PDF size: 135.62 Kb.

ABSTRACT

The 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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