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

Journal Article · Fri Mar 01 00:00:00 EST 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960301)62:1<26::AID-AJMG6>3.3.CO;2-O· OSTI ID:437136

Franceschini, P; Guala, A; Camerano, P; Franceschini, D; Vardeu, M P; Signorile, F ^[1]

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1. Universita di Torino (Italy)

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 left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18. 13 refs., 2 figs., 1 tab.

• OSTI ID: 437136
• Journal Information: American Journal of Medical Genetics, Vol. 62, Issue 1; Other Information: PBD: 1 Mar 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
PHENOTYPE
HEREDITARY DISEASES
KARYOTYPE
CONGENITAL MALFORMATIONS
HUMAN CHROMOSOME 18
CHROMOSOMAL ABERRATIONS
MOSAICISM
ANEUPLOIDY