Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18.

doi:10.1002/(SICI)1096-8628(19960301)62:1<26::AID-AJMG6>3.0.CO;2-U

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Article

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18.

American journal of medical genetics - 1 Mar 1996

Franceschini P, Guala A, Camerano P, Franceschini D, Vardeu M P, Signorile F

Abstract excerpt

We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the lef...

Topics

Abnormalities, Multiple
Adult
Arm
Child
Chromosomes, Human, Pair 18
Dwarfism
Face
Female
Humans
Hypertrichosis
Male
Mosaicism
Phenotype
X Chromosome

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