Turner syndrome patients with a ring X chromosome

Gary Berkovitz, J. Stamberg, L. P. Plotnick, R. Lanes

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

A patient with clinical features of Turner syndrome and a 45,X karyotype in repeated blood cultures was re-evaluated when she spontaneously entered puberty. A ring X cell line was found in a small proportion of fibroblasts. A review of 35 previously published ring X cases is presented. All are mosaic, the major cell line in most cases being 45,X. There is wide variation in the frequency with which the abnormalities associated with Turner syndrome are found in these patients. All have short stature. Some are sexually developed and fertile. Cardiovascular anomalies are uncommon. This phenotypic variation may have at least two causes: the size of the deleted portion at each end of the X chromosome, and the relative frequency and distribution of 45,X and 46,X,r(X) cell lines in various body tissues.

Original languageEnglish
Pages (from-to)447-453
Number of pages7
JournalClinical Genetics
Volume23
Issue number6
StatePublished - Jan 1 1983
Externally publishedYes

Fingerprint

Ring Chromosomes
Turner Syndrome
X Chromosome
Cell Line
Portion Size
Puberty
Karyotype
Fibroblasts

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Berkovitz, G., Stamberg, J., Plotnick, L. P., & Lanes, R. (1983). Turner syndrome patients with a ring X chromosome. Clinical Genetics, 23(6), 447-453.

Turner syndrome patients with a ring X chromosome. / Berkovitz, Gary; Stamberg, J.; Plotnick, L. P.; Lanes, R.

In: Clinical Genetics, Vol. 23, No. 6, 01.01.1983, p. 447-453.

Research output: Contribution to journalArticle

Berkovitz, G, Stamberg, J, Plotnick, LP & Lanes, R 1983, 'Turner syndrome patients with a ring X chromosome', Clinical Genetics, vol. 23, no. 6, pp. 447-453.
Berkovitz G, Stamberg J, Plotnick LP, Lanes R. Turner syndrome patients with a ring X chromosome. Clinical Genetics. 1983 Jan 1;23(6):447-453.
Berkovitz, Gary ; Stamberg, J. ; Plotnick, L. P. ; Lanes, R. / Turner syndrome patients with a ring X chromosome. In: Clinical Genetics. 1983 ; Vol. 23, No. 6. pp. 447-453.
@article{15e6166fcee1410f83e747360ee252e3,
title = "Turner syndrome patients with a ring X chromosome",
abstract = "A patient with clinical features of Turner syndrome and a 45,X karyotype in repeated blood cultures was re-evaluated when she spontaneously entered puberty. A ring X cell line was found in a small proportion of fibroblasts. A review of 35 previously published ring X cases is presented. All are mosaic, the major cell line in most cases being 45,X. There is wide variation in the frequency with which the abnormalities associated with Turner syndrome are found in these patients. All have short stature. Some are sexually developed and fertile. Cardiovascular anomalies are uncommon. This phenotypic variation may have at least two causes: the size of the deleted portion at each end of the X chromosome, and the relative frequency and distribution of 45,X and 46,X,r(X) cell lines in various body tissues.",
author = "Gary Berkovitz and J. Stamberg and Plotnick, {L. P.} and R. Lanes",
year = "1983",
month = "1",
day = "1",
language = "English",
volume = "23",
pages = "447--453",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "6",

}

TY - JOUR

T1 - Turner syndrome patients with a ring X chromosome

AU - Berkovitz, Gary

AU - Stamberg, J.

AU - Plotnick, L. P.

AU - Lanes, R.

PY - 1983/1/1

Y1 - 1983/1/1

N2 - A patient with clinical features of Turner syndrome and a 45,X karyotype in repeated blood cultures was re-evaluated when she spontaneously entered puberty. A ring X cell line was found in a small proportion of fibroblasts. A review of 35 previously published ring X cases is presented. All are mosaic, the major cell line in most cases being 45,X. There is wide variation in the frequency with which the abnormalities associated with Turner syndrome are found in these patients. All have short stature. Some are sexually developed and fertile. Cardiovascular anomalies are uncommon. This phenotypic variation may have at least two causes: the size of the deleted portion at each end of the X chromosome, and the relative frequency and distribution of 45,X and 46,X,r(X) cell lines in various body tissues.

AB - A patient with clinical features of Turner syndrome and a 45,X karyotype in repeated blood cultures was re-evaluated when she spontaneously entered puberty. A ring X cell line was found in a small proportion of fibroblasts. A review of 35 previously published ring X cases is presented. All are mosaic, the major cell line in most cases being 45,X. There is wide variation in the frequency with which the abnormalities associated with Turner syndrome are found in these patients. All have short stature. Some are sexually developed and fertile. Cardiovascular anomalies are uncommon. This phenotypic variation may have at least two causes: the size of the deleted portion at each end of the X chromosome, and the relative frequency and distribution of 45,X and 46,X,r(X) cell lines in various body tissues.

UR - http://www.scopus.com/inward/record.url?scp=0020612168&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0020612168&partnerID=8YFLogxK

M3 - Article

VL - 23

SP - 447

EP - 453

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 6

ER -