Case Reports
doi: 10.1111/j.1399-0004.1977.tb01289.x.
46, X,X-X terminal rearrangement/45, X mosaicism in a child with short stature
- PMID: 837561
- DOI: 10.1111/j.1399-0004.1977.tb01289.x
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Case Reports
46, X,X-X terminal rearrangement/45, X mosaicism in a child with short stature
Clin Genet.
1977 Feb.
Abstract
A phenotypically female child, investigated because of short stature, had abnormally large, often bipartite Barr bodies and a mosaicism of 45, X cells and cells with 46 chromosomes which included an exceptionally large metacentric chromosome (Xp+). G- and C-banding established that the chromosome was derived from two substantially entire X chromosomes joined short arm-to-short arm, and was likely to be an isodicentric X with functional inactivation of one centromere.
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