1.
Am J Med Genet
; 40(3): 280-3, 1991 Sep 01.
Article
in English
| MEDLINE
| ID: mdl-1951429
ABSTRACT
We report clinical and cytogenetic findings on a 24-year-old woman with short stature, irregular menses, and other anomalies suggestive of Ullrich-Turner syndrome (UTS). Chromosome analysis documented a de novo duplication of Xp21 without any apparent microscopic deletion. DNA studies showed that part of band Xp22.1 is also duplicated. The clinical findings are compared with 5 other patients with dup(Xp).