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2.
Article in English | IMSEAR | ID: sea-51609

ABSTRACT

Barr body is an inactivated X chromosome in the normal female somatic cell. Inactivation of these chromosomes is known as Lyonization. Lyonization has both genetic and clinical significance. Barr body can be easily identified with ordinary stains. It also helps in identifying the sex of an individual when used judiciously. A review is made on the lyonization of Barr body and its utility in sex determination.


Subject(s)
Chromosomes, Human, X/genetics , Coloring Agents/diagnosis , Female , Humans , Sex Chromatin/genetics , Sex Determination Analysis
3.
Indian J Pathol Microbiol ; 2002 Apr; 45(2): 155-9
Article in English | IMSEAR | ID: sea-73346

ABSTRACT

An attempt has been made to find out the proportion of genetic causes in cases of primary amenorrhoea and to analyse different chromosomal pattern. Cases were analysed according to clinical profile, X-ray, laparoscopy/pneumography, hormone profile, USG, Gonadal Biopsy and Cytogenetic study including Sex Chromatin (Barr body) and Karyotyping. Among the 72 cases studied, the aetiological factors were Mullerian duct abnormalities in 27 cases (37.5%) Gonadal agenesis in 13 cases (18.05%). Turner stigmata in 18 cases (25%), Y cell line in 6 cases (8.33%). Delayed menarche in 4 cases (5.55%), systemic disease like Tuberculosis and Idiopathic 2 cases (2.77%) each. Chromosomal aberration was seen in 24 cases (33.33%) and it comes second most common cause of primary amenorrhoea after mullerian duct abnormalities.


Subject(s)
Amenorrhea/etiology , Chromosome Aberrations , Cytogenetic Analysis , Female , Gonadal Dysgenesis/complications , Humans , Karyotyping , Mosaicism/genetics , Mullerian Ducts/abnormalities , Sex Chromatin/genetics , Turner Syndrome/complications
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