title: A clinical and cytogenetic study of Turner syndrome.
abstract: Forty five case of Turner syndrome diagnosed in the Genetics Clinic, between January 1986 and December 1993, were analyzed. The most commonly observed karyotype was 45, X (44.4%), followed by 45, X/46, XX mosaicism (24.4%). Less frequently demonstrated karyotypes were 45, X/46, X, i (Xq) mosaicism and 46, X, i (Xq) (13.3%). Mosaicism for chromosome was seen in 6.7% of patients. Patients with 45, X karyotype had short stature (85%), dysmorphic facies (60%), delayed appearance of secondary sexual characters (100%) and primary amennorhea (100%). Those with 45, X/46, XX mosaicism were less often dysmorphic and presented with either primary or secondary amenorrhea. Patients with 45, X karyotype were younger at diagnosis and had a significantly shorter mean adult height than those with 45, X/46, XX mosaicism. The phenotype in patients with other karyotypic abnormalities was similar to the 45, X group. Short stature and primary or secondary amenorrhea occurring together in a female strongly suggests the possibility of Turner syndrome, which should be confirmed by chromosomal analysis.
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
authors.forename: M
authors.initials: M
authors.lastname: Suri
authors.forename: M
authors.initials: M
authors.lastname: Kabra
authors.forename: U
authors.initials: U
authors.lastname: Jain
authors.forename: V
authors.initials: V
authors.lastname: Sanders
authors.forename: R
authors.initials: R
authors.lastname: Saxena
authors.forename: A
authors.initials: A
authors.lastname: Shukla
authors.forename: G V
authors.initials: GV
authors.lastname: Singh
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D003582:Cytogenetics / Q000379:methods; D003937:Diagnosis, Differential; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D011379:Prognosis; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone