title: Association of intrauterine growth retardation with monosomy of the terminal segment of the short arm of the X chromosome in patients with Turner's syndrome.
abstract: Short stature, which may be a result of intrauterine growth retardation (IUGR), is a characteristic of Turner's syndrome. However, the loci responsible for IUGR have not been well studied. We reviewed the birth records of 74 patients with Turner's syndrome: 20 with pure X monosomy, 44 with X-mosaicisms, and 10 with X-structural abnormalities. The overall incidence of IUGR was 39.2% (29 of 74 patients). The SHOX gene is encoded in a terminal segment of the short arm of the X chromosome. In 39 patients where two copies of the SHOX gene were absent, the incidence of IUGR was 46.2% (18 of 39 patients). In 14 patients with two copies of the SHOX gene, the incidence of IUGR was significantly lower at 7.1% (1 of 14 patients). Our results suggest that SHOX influences in utero growth in Turner's syndrome.
authors.affiliation: Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Yaegashi
authors.forename: S
authors.initials: S
authors.lastname: Uehara
authors.forename: H
authors.initials: H
authors.lastname: Ogawa
authors.forename: K
authors.initials: K
authors.lastname: Hanew
authors.forename: A
authors.initials: A
authors.lastname: Igarashi
authors.forename: K
authors.initials: K
authors.lastname: Okamura
authors.forename: A
authors.initials: A
authors.lastname: Yajima
mesh_terms: D015897:Comorbidity; D005260:Female; D005317:Fetal Growth Retardation / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D007621:Karyotyping; D009006:Monosomy / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D012042:Registries; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D014424:Turner Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D014960:X Chromosome