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

doi:10.1111/j.1399-0004.1997.tb02541.x

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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...

Topics

Adult
Chromosome Deletion
Chromosome Inversion
Dosage Compensation, Genetic
Family Health
Female
Fertility
Gonadal Dysgenesis
Heterozygote
Humans
Male
Multigene Family
Nuclear Family
Pedigree
Phenotype
Sex Chromosome Aberrations
X Chromosome

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