A Chromosome Anomaly New to the “Cri du Chat” Syndrome

Abstract
A 6-month-old female infant with many clinical symptoms compatible with the “cri du chat” syndrom was studied chromosomally, together with some familial members with normal phenotypes. Both leucocyte and skin cultures were performed. The infant possessed 45 chromosomes, with an absent G group chromosome. The two parents and paternal grandmother had a normal chromosome complement. A tentative interpretation involving a masked B/G translocation is presented to explain the origin of the chromosome abnormalities occurring in this infant.

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