Array comparative genomic hybridization analysis of heritable Xp deletion.

摘要

Turner syndrome (TS) occurs in 1 in 2,500 births and can result from several chromosomal abnormalities [Lippe, 1991]. Approximately half have monosomy X (45,X), and the remainder has Xp deletion or mosaicism for 45,X with one or more additional cell lines. Primary gonadal failure and infertility are major features of TS, which is therefore considered non-hereditary [Lippe, 1991]. However, 20% of girls with TS develop puberty spontaneously and evidence of TS spanning 2-4 generations exist in the literature [Massa et al, 1990; Wandstrat et al, 2000; Lachlan et al., 2006]. Fertility can be retained in cases with deletions involving up to two-thirds of Xp or having mosaicism for 46,XX or 47,XXX cell lines [Lachlan et al., 2006]. Among those with fertility, there is an increased risk of spontaneous pregnancy loss, and aneuploidy in fetuses carried to term [Kulkarni and Wardle, 2006].