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Partial duplication of Xp: a case report and review of previously reported cases
H E Wyandt1, L Bugeau-Michaud, J C Skare
1Center for Human Genetics, School of Medicine, Boston University, Massachusetts 02118.
American Journal of Medical Genetics
|September 1, 1991
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).