45,X/46,X,+r(X) Can have a distinct phenotype different from Ullrich- Turner syndrome

Markus Grompe, N. Rao, F. F B Elder, C. T. Caskey, F. Greenberg

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

We present a patient with 45,X/46,X,+r(X) mosaicism and lack of inactivation of either the normal or the ring X in the 46,X,+r(X) cells. The patient has mental retardation, syndactyly, minor facial anomalies, and a congenital heart defect. Although most patients with 45,X/46,X,+r(X) have the Ullrich-Turner syndrome, 2 previously described patients with this karyotype also had a distinct phenotype consisting of severe mental retardation, syndactyly, and abnormal face. The unusually severe phenotype in these patients was thought to be due to lack of X-inactivation of the ring X chromosome. The findings in our patient support this hypothesis.

Original languageEnglish (US)
Pages (from-to)39-43
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume42
Issue number1
StatePublished - 1992
Externally publishedYes

Fingerprint

Turner Syndrome
Phenotype
Syndactyly
Intellectual Disability
Ring Chromosomes
X Chromosome Inactivation
Mosaicism
Congenital Heart Defects
X Chromosome
Karyotype

Keywords

  • mental retardation
  • microcephaly
  • ring chromosome
  • syndactyly
  • X-inactivation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

45,X/46,X,+r(X) Can have a distinct phenotype different from Ullrich- Turner syndrome. / Grompe, Markus; Rao, N.; Elder, F. F B; Caskey, C. T.; Greenberg, F.

In: American Journal of Medical Genetics, Vol. 42, No. 1, 1992, p. 39-43.

Research output: Contribution to journalArticle

Grompe, Markus ; Rao, N. ; Elder, F. F B ; Caskey, C. T. ; Greenberg, F. / 45,X/46,X,+r(X) Can have a distinct phenotype different from Ullrich- Turner syndrome. In: American Journal of Medical Genetics. 1992 ; Vol. 42, No. 1. pp. 39-43.
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