A Cri du Chat Syndrome Case from the Phenotypically Normal Mother with a Deleted No. 5 Chromosome

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A cytogenetic study is carried out with leucocyte cultures in a 28-day-old female infant with the clinical symptoms of cri du chat syndrome and in her parent. The propositus showed the hort arm deletion of no. 5 chromosome, characteristic of this syndrome. A similar abnormality is observed in her mother. Because of her normal phenotype, she is presumed as a balanced translocation carrier, though it is impossible to demonstrate the evidence of translocation. Her father shows a normal karyotype, 46, XY.
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