Summary
A newborn female with anal atresia, duodenal perforation and mild Turner's stigmata was found to have a karyotype of 45,X/46,X, psu dic(X)(qter→p22::p22→qter) in her lymphocytes. The rearranged chromosome had only one primary constriction and always demonstrated late replication. The constitutive heterochromatin at the pseudocentromeric region was C-band positive but Cd-band negative. Analysis of the DNA replication sequence in initiation by B-pulse methods in lymphocytes revealed a frequent asymmetric pattern and more than two types of sequence at both long arms of psu dic(X). The pattern of DNA replication did not relate to the position of the active centromere. The existence of replication variants by B-pulse method may merely indicates the occasional asynchronous start of segments in the distal long arm of X chromosome.
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Yamamoto, Y., Suzuki, N., Matsuyama, S. et al. DNA replication study in a female infant with a karyotype of 45,X/46,X, psu dic(X) (p22::p22) and review of the literature. Jap J Human Genet 32, 97–105 (1987). https://doi.org/10.1007/BF01893163
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DOI: https://doi.org/10.1007/BF01893163