Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2006 Jun;91(6):513-20.
doi: 10.1136/adc.2003.035907.

Optimising management in Turner syndrome: from infancy to adult transfer

M D C Donaldson  1 , E J Gault, K W Tan, D B Dunger
Affiliations
Review

Optimising management in Turner syndrome: from infancy to adult transfer

M D C Donaldson et al. Arch Dis Child. 2006 Jun.

Abstract

Turner syndrome can be defined as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female. The condition occurs in approximately 1 in every 2000 live female births,(1) so that in the UK the prevalence for any year of life is in the region of 200 girls. The condition is much more common in utero, it being estimated that 1-2% of all conceptuses are affected, of whom only 1% will survive to term.

PubMed Disclaimer

Conflict of interest statement

Competing interests: none declared

References

    1. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13‐year incidence study in Arhus, Denmark. Hum Genet 19918781–83. - PubMed
    1. Cockwell A, MacKenzie M, Youings S.et al A cytogenetic and molecular study of a series of 45,X fetuses and their parents. J Med Genet 199128151–155. - PMC - PubMed
    1. Hook E B, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 19836424–27. - PubMed
    1. Jacobs P, Dalton P, James R.et al Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet 199761471–483. - PubMed
    1. Carrel L, Cottle A A, Goglin K C.et al A first‐generation X‐inactivation profile of the human X chromosome. Proc Natl Acad Sci U S A 19999614440–14444. - PMC - PubMed

Publication types