Key result
Q and R banding detects cri du chat chromosomal translocations missed by conventional staining.
Advanced banding techniques can identify complex chromosomal rearrangements missed by conventional staining in patients with suspected cri du chat syndrome.
May identify cryptic rearrangements missed by conventional karyotyping in cri du chat; leaves open routine adoption pending larger studies.
An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.
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Mattéi et al. (1978) studied this question. Q and R banding identified an unbalanced t(5;Y) and an apparently balanced t(2;13) translocation in a boy with clinical cri du chat syndrome missed by conventional staining.
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