Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction

R. S. James; A. J. Sharp; A. E. Cockwell; B. Coppin; P. A. Jacobs

doi:10.1136/jmg.34.12.1030

Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction

R. S. James, A. J. Sharp, A. E. Cockwell, B. Coppin, P. A. Jacobs

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

Abstract

Gonadal dysgenesis resulting in primary infertility is one of the most common features of Turner syndrome. There have been a number of cases described of pregnancy in 45,X subjects, but whether or not the fertility is associated with a 46,XX cell line in the germ cells is not known. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility, in whom a cryptic 46,XX cell line was found in the germ cells.

Original language	English
Pages (from-to)	1030-1032
Number of pages	3
Journal	Journal of Medical Genetics
Volume	34
Issue number	12
DOIs	https://doi.org/10.1136/jmg.34.12.1030
Publication status	Published - 1997
Externally published	Yes

Keywords

Fertility
Mosaicism
Turner syndrome

Access to Document

10.1136/jmg.34.12.1030Licence: In Copyright

Cite this

@article{8042b560f9844376a307838fecb4bdbe,

title = "Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction",

abstract = "Gonadal dysgenesis resulting in primary infertility is one of the most common features of Turner syndrome. There have been a number of cases described of pregnancy in 45,X subjects, but whether or not the fertility is associated with a 46,XX cell line in the germ cells is not known. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility, in whom a cryptic 46,XX cell line was found in the germ cells.",

keywords = "Fertility, Mosaicism, Turner syndrome",

author = "James, {R. S.} and Sharp, {A. J.} and Cockwell, {A. E.} and B. Coppin and Jacobs, {P. A.}",

year = "1997",

doi = "10.1136/jmg.34.12.1030",

language = "English",

volume = "34",

pages = "1030--1032",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ PUBLISHING",

number = "12",

}

TY - JOUR

T1 - Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction

AU - James, R. S.

AU - Sharp, A. J.

AU - Cockwell, A. E.

AU - Coppin, B.

AU - Jacobs, P. A.

PY - 1997

Y1 - 1997

N2 - Gonadal dysgenesis resulting in primary infertility is one of the most common features of Turner syndrome. There have been a number of cases described of pregnancy in 45,X subjects, but whether or not the fertility is associated with a 46,XX cell line in the germ cells is not known. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility, in whom a cryptic 46,XX cell line was found in the germ cells.

AB - Gonadal dysgenesis resulting in primary infertility is one of the most common features of Turner syndrome. There have been a number of cases described of pregnancy in 45,X subjects, but whether or not the fertility is associated with a 46,XX cell line in the germ cells is not known. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility, in whom a cryptic 46,XX cell line was found in the germ cells.

KW - Fertility

KW - Mosaicism

KW - Turner syndrome

UR - http://www.scopus.com/inward/record.url?scp=0030810205&partnerID=8YFLogxK

U2 - 10.1136/jmg.34.12.1030

DO - 10.1136/jmg.34.12.1030

M3 - Article

C2 - 9429151

AN - SCOPUS:0030810205

SN - 0022-2593

VL - 34

SP - 1030

EP - 1032

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 12

ER -

Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this