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Alternative DNA Replication Patterns Associated with Long Arm Length of Chromosomes 4 and 5 in the Cri du Chat Syndrome

1966; Karger Publishers; Volume: 5; Issue: 3-4 Linguagem: Inglês

10.1159/000129893

1424-8581

O.J. Miller, W. Roy Breg, Dorothy Warburton, Dorothym A. Miller, I. Lester Firschein, Kurt Hirschhorn,

Prenatal Screening and Diagnostics

Autoradiographic studies of cultured leucocytes from nine cases of the cri du chat syndrome have been carried out. The deleted chromosome 4 or 5 is early replicating in seven cases, late replicating in one case, and not clearly either, in the case of a ring chromosome 4 or 5. The long arms of the early replicating deleted chromosome are significantly shorter than the mean length of the late replicating chromosomes and the same length as the other early replicating chromosome. The simplest interpretation of these observations is that the deleted chromosome and the other early replicating chromosome are homologues. Since they have shorter long arms, they are probably chromosome 5. The long arms of the late replicating deleted chromosome are relatively long, suggesting that it may be chromosome 4. The phenotypes are similar in all nine cases and show no distinct relationship to the replication pattern or to the length of the long arm of the deleted chromosome.