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A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion

✍ Scribed by D. P. Duckett; I. D. Young

Publisher
Springer
Year
1988
Tongue
English
Weight
344 KB
Volume
79
Category
Article
ISSN
0340-6717

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✦ Synopsis

A 7 3/4-year-old girl with short stature was found to have a recombinant (X),dup q chromosome resulting from an apparently unique pericentric inversion (X)(p11.2q26) present in her mother and maternal grandmother. The recombinant X chromosome was shown to be late replicating and the inversion X chromosome to be randomly inactivated. This appears to be only the eighth report (7 female, 1 male) of a recombinant resulting from an X pericentric inversion despite all diagnosed females having mild clinical abnormalities. Reasons for the rarity of such recombinant X chromosomes in man are examined.

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