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46, X,X‐X terminal rearrangement / 45 , X mosaicism in a child with short stature
Author(s) -
Becroft D. M. O.,
Costello J. M.,
Shaw R. L.
Publication year - 1977
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1977.tb01289.x
Subject(s) - short stature , x chromosome , centromere , genetics , biology , chromosome , endocrinology , gene
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 in‐activation of one centromere.