[Turner syndrome and mosaicism].

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Article

[Turner syndrome and mosaicism].

Bulletin de l'Academie nationale de medecine - 1 Jan 2003

Battin Jacques

Abstract excerpt

Turner's syndrome is a gonadosomatic dysgenesis of female phenotype due to a more or less complete monosomy of one of the X chromosomes leading to a haploinsufficiency of the development genes situated at the level of the pseudoautosomal region of the gonosomes. Further experience of the karyotype showed a preponderance of mosaics and considerable variability of Turner's phenotype in proportion to the number of...

Topics

Abnormalities, Multiple
Chromosomes, Human, X
Diseases in Twins
Dosage Compensation, Genetic
Female
Growth Disorders
Humans
Intellectual Disability
Mosaicism
Organ Specificity
Phenotype
Turner Syndrome
Twins, Monozygotic

Source

Open in PubMed

Identifiers

PMID: 14556446

Provenance

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