Genetic considerations in the patient with Turner syndrome - 45,X with or without mosaicism

Quincy Zhong, Lawrence C Layman

Research output: Contribution to journalReview article

57 Citations (Scopus)

Abstract

Turner syndrome (TS) is a complex developmental disorder in individuals with short stature who possess a 45,X cell line, with or without mosaicism. Because the single X chromosome is maternally derived in 80% of patients, the genesis of the 45,X karyotype is due to instability of the Y chromosome leading to its loss during meiosis. Phenotypic features vary depending on the mode of ascertainment, with postnatal presentation usually generating a more severe phenotype than a prenatal one. Although patients with pure 45,X present with delayed puberty more often than those with mosaicism for 46,XX or 47,XXX cell lines, the chromosomal complement cannot reliably predict the clinical presentation. Most living TS patients are mosaics, whereas nearly all first-trimester TS fetuses have a single 45,X cell line. Exclusion of a Y cell line, the presence of which increases the risk of gonadoblastomas and subsequent gonadal germ cell tumors, is best accomplished by karyotype, fluorescence in situ hybridization, and DNA analysis if necessary. The precise genetic etiology of TS has not been elucidated, but it does appear that deletion of the short arm of the X chromosome is sufficient to result in the TS phenotype, thereby implicating haploinsufficiency of multiple genes, including SHOX.

Original languageEnglish (US)
Pages (from-to)775-779
Number of pages5
JournalFertility and sterility
Volume98
Issue number4
DOIs
StatePublished - Jan 1 2012

Fingerprint

Turner Syndrome
Mosaicism
Cell Line
X Chromosome
Karyotype
Gonadoblastoma
Delayed Puberty
Phenotype
Haploinsufficiency
Germ Cell and Embryonal Neoplasms
Y Chromosome
Meiosis
First Pregnancy Trimester
Fluorescence In Situ Hybridization
Fetus
DNA
Genes

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

Cite this

Genetic considerations in the patient with Turner syndrome - 45,X with or without mosaicism. / Zhong, Quincy; Layman, Lawrence C.

In: Fertility and sterility, Vol. 98, No. 4, 01.01.2012, p. 775-779.

Research output: Contribution to journalReview article

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