Cover Image

Mosaic Variant Turners Syndrome A Rare Case Report

PARVEEN KUMAR P PANNEERSELVAM

Abstract


A 6 year old girl was brought to us with complaints
of being short. On examination she was a case of
proportionate short stature. There were no syndromic or
dysmorphic facies. Endocrine evaluations were normal as
also were the cardiology and ultrasound findings. Karyotyping
was done which was reported as Mosaic Turners Syndrome.
This case is being presented for Mosaic Turners Syndrome
presenting as isolated short stature.

Full Text:

PDF

References


Nelson Textbook of Paediatrics 19th edition

James, William; Berger, Timothy; Elston, Dirk (2005).

Andrews' Diseases of the Skin: Clinical Dermatology 10th

edition

Sybert VP "Cardiovascular malformations and

complications in Turner syndrome". Pediatrics 101

Nielsen J, Sillesen I, Hansen KB “Fertility in women with

Turner's syndrome. Case report and review of literature".

British journal of obstetrics and gynaecology

Sybert VP, McCauley E. "Turner's syndrome" New

England Journal of Medicine. 351 (12): 1227–38

Uematsu, A.; Yorifuji, T.; Muroi, Parental origin of normal

X chromosomes in Turner syndrome patients with various

karyotypes: Implications for the mechanism leading to

generation of a 45, Xkaryotype. American Journal of

Medical Genetics 134–139


Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

An initiative of The Tamil Nadu Dr M.G.R. Medical University