Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome - PubMed

• PMID: 302683

Case Reports

Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome

T Abe et al. Ann Genet. 1977 Jun.

Abstract

A 3-year-old boy with partial No. 9 tetrasomy is described. The patient showed markedly retarded physical and mental development as well as multiple congenital anomalies. Routine chromosome analysis revealed an extra C-group chromosome. It had a pronounced secondary constriction at the proximal part of its long arm. Based on studies by a variety of banding techniques, the extra chromosome was identified to be an iso-dicentric No. 9 chromosome with inactivation of one of the two centromeres, the karyotype being 47,XY, + DIC (9)(Q2101). The value of BrdUrd treatment was emphasized in the detection of a very small piece of euchromatin within a long stretch of constitutive heterochromatin.

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