Ullrich-Turner syndrome with unilateral agenesis of breast, nipple, and pectoralis major

A 16-year-old girl with mosaic Ullrich-Turner syndrome [45,X/46,X,i(Xq)] had agenesis of the left breast, nipple, pectoralis major, and agenesis of hair follicles of the left axilla. This appears to be the first description of this anomaly in the Ullrich-Turner syndrome.

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 44; no. 1; p. 11
Main Authors Cohen, A, Lavagetto, A, Romano, C
Format Journal Article
LanguageEnglish
Published United States 01.09.1992
Subjects
Abnormalities, Multiple - genetics
Breast - abnormalities
Child
Female
Humans
Mosaicism
Nipples - abnormalities
Poland Syndrome - genetics
Syndrome
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Summary:A 16-year-old girl with mosaic Ullrich-Turner syndrome [45,X/46,X,i(Xq)] had agenesis of the left breast, nipple, pectoralis major, and agenesis of hair follicles of the left axilla. This appears to be the first description of this anomaly in the Ullrich-Turner syndrome.
ISSN:0148-7299
DOI:10.1002/ajmg.1320440104