A clinical and cytogenetic study of Turner syndrome.

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dc.contributor.authorSuri, Men_US
dc.contributor.authorKabra, Men_US
dc.contributor.authorJain, Uen_US
dc.contributor.authorSanders, Ven_US
dc.contributor.authorSaxena, Ren_US
dc.contributor.authorShukla, Aen_US
dc.contributor.authorSingh, G Ven_US
dc.contributor.authorVerma, I Cen_US
dc.date.accessioned1995-04-01en_US
dc.date.accessioned2009-05-27T05:28:10Z
dc.date.available1995-04-01en_US
dc.date.available2009-05-27T05:28:10Z
dc.date.issued1995-04-01en_US
dc.description.abstractForty 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.en_US
dc.description.affiliationDepartment of Pediatrics, All India Institute of Medical Sciences, New Delhi.en_US
dc.identifier.citationSuri M, Kabra M, Jain U, Sanders V, Saxena R, Shukla A, Singh GV, Verma IC. A clinical and cytogenetic study of Turner syndrome. Indian Pediatrics. 1995 Apr; 32(4): 433-42en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/11072
dc.language.isoengen_US
dc.source.urihttps://indianpediatrics.neten_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAge of Onseten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChromosome Aberrations --diagnosisen_US
dc.subject.meshChromosome Disordersen_US
dc.subject.meshCytogenetics --methodsen_US
dc.subject.meshDiagnosis, Differentialen_US
dc.subject.meshFemaleen_US
dc.subject.meshFollicle Stimulating Hormone --blooden_US
dc.subject.meshHumansen_US
dc.subject.meshKaryotypingen_US
dc.subject.meshLuteinizing Hormone --blooden_US
dc.subject.meshMaleen_US
dc.subject.meshPrognosisen_US
dc.subject.meshTurner Syndrome --complicationsen_US
dc.titleA clinical and cytogenetic study of Turner syndrome.en_US
dc.typeJournal Articleen_US
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