Partial duplication of Xp: a case report and review of previously reported cases.
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).
Wyandt
H E
HE
Center for Human Genetics, School of Medicine, Boston University, Massachusetts 02118.
Bugeau-Michaud
L
L
Skare
J C
JC
Milunsky
A
A
D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D002871:Chromosome Banding; D004247:DNA; D005260:Female; D006801:Humans; D007621:Karyotyping; D005810:Multigene Family; D009693:Nucleic Acid Hybridization; D010053:Ovary / Q000002:abnormalities; D012640:Seizures / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
D004247:DNA