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Article

Familial inv(X) (p22q22): ovarian dysgenesis in two sisters with del Xq and fertility in one male carrier.

Clinical genetics - 1 Sept 1997

Madariaga M L, Rivera H

Abstract excerpt

A recombinant chromosome with Xp duplication and Xq deletion was found in two sisters with normal height and gonadal dysgenesis. Their mother and other four relatives, including a fertile male, carried an inv(X) (p22q22); the inverted X was randomly inactivated in one female carrier. The abnormal X chromosome showed inactivation in all the examined cells. This is the tenth report of a recombinant X chromosome. A...

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Identifiers

PMID: 9377809
DOI: 10.1111/j.1399-0004.1997.tb02541.x

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