Sex Chromatin Testing by Buccal Smear Technique Today

1983 ◽  
Vol 6 (1) ◽  
pp. 22-24
Author(s):  
Adrian J. Briffa
Keyword(s):  
2018 ◽  
Vol 9 (3) ◽  
pp. 41-45
Author(s):  
Koel Mukherjee ◽  
Diptendu Chatterjee ◽  
Arup Ratan Bandyopadhyay

Background: Menopause being a physiologic event and eventually the prime time to perform risk assessment of chronic diseases and initiate preventive health measures. Previous studies reported, later menopause is independently associated to increased risk of breast and endometrial cancer. The menopausal status is determined and influenced by intrinsic factors. Majority of the studies on menopause from Indian context, especially on Bengalee Hindu Caste population confined to socio demographic issues, attitudes, problems and quality of life. However, relatively little work is attempted to unravel the complex interplay of genetics and epigenetic mechanisms, the effect on menopause. In this background it seems to be an urgent need to understand menopause status objectively, to approach the interplay of genetics and epigenetic mechanisms of menopausal status by X chromatin inactivation.Aims and Objective: Best of the knowledge it is the first attempt to evaluate the prevalence of X chromatin inactivation in menopausal women among Bengalee Hindu Caste population.Materials and Methods: Sex chromatin inactivation was evaluated from 100 each pre and post menopausal women from the buccal smear of each individuals. After fixation and staining of altogether 20000 (twenty thousand) cells were scanned from the Bengalee Hindu Caste for a comparison of menopausal women and their menarcheal counterparts.Results: Result demonstrated significantly decreased (P<0.001) prevalence of X chromatin inactivation sites among the menopausal females in comparison to their menarcheal women counterpart.Conclusion: The present study vindicated possible association between the presence of sex hormone receptors and the prevalence of sex chromatin and also envisaged the role of X chromatin inactivation for early prognosis of menopause.Asian Journal of Medical Sciences Vol.9(3) 2018 41-45


1975 ◽  
Vol 80 (4) ◽  
pp. 753-760 ◽  
Author(s):  
R. Coco ◽  
H. Chemes ◽  
C. Bergada ◽  
Juan Kraizer

ABSTRACT A 1010/12 years old virilized girl with the syndrome of asymmetrical gonadal differentiation is reported. The patient had a negative sex chromatin and positive Y chromatin (bright fluorescent body of Y chromosome) in the buccal smear and 45,X/46,XY karyotype in the peripheral blood lymphocytes. An exploratory laparotomy showed a small uterus, two Fallopian tubes, a tumoural testis on the right side and a streak on the left side. Pathological examination revealed the presence of gonadoblastoma in both gonads. The Y chromatin was identified on histological sections only on the side of the testis, and was absent on the streak and its gonadoblastoma's nests. The distribution of the different cell lines and the fluorescence of the Y chromosome is discussed in relation to gonadal differentiation and the occurrence of gonadoblastoma.


PEDIATRICS ◽  
1962 ◽  
Vol 30 (5) ◽  
pp. 707-711
Author(s):  
David W. Smith ◽  
Philip M. Marden ◽  
Michael J. McDonald ◽  
Mark Speckhard

The incidence of the sex chromatin mass in buccal cells of newborn females is often lower during the first day or two of postnatal life, as compared to later ages. This finding allows for misinterpretation of the significance of buccal smear results during the first day or two. A similar phenomenon was noted in mothers during the day prior to delivery and for one to two days thereafter. This suggests a common etiology for this effect in both the mother and the newborn infant.


1967 ◽  
Vol 20 (3) ◽  
pp. 859-866 ◽  
Author(s):  
Richard E. Carney

The per cent of sex chromatin in a buccal smear correlated non-linearly with measures of achievement motivation and masculinity of body structure. Smokers had more sex chromatin than non-smokers. Achievement motivation and smoking were positively correlated. Masculinity of body structure showed complex relationships with smoking which depended on Ss' sex and religion, and possibly, the cultural pressure against smoking.


PEDIATRICS ◽  
1970 ◽  
Vol 45 (4) ◽  
pp. 677-686
Author(s):  
Robert M. Greenstein ◽  
David J. Harris ◽  
Luigi Luzzatti ◽  
Howard M. Cann

A 3-year-old boy with radio-ulnar synostosis and mild mental retardation was found to have a 48/XXXY chromosome constitution in blood and skin cultures without evidence of mosaicism. Autoradiography of the cultured cells identified two late-labeling X-chromosomes. His buccal smear revealed double and single sex chromatin bodies. The patient and his family were studied for segregation of Xg blood types which are controlled by X-linked genes. This revealed the father to be Xg(a+), a positive hemizygote; the mother Xg (a-) was homozygous negative; and the proband was Xg(a-). These findings suggest that the three X-chromosomes of the proband came from his mother. It is proposed that nondisjunction occurred at both the first and second meiotic divisions of oogenesis, producing a triple-X (XXX) ovum which was then fertilized by the paternal Y-bearing sperm. This communication represents the first reported case of the XXXY syndrome in which informative cytogenetic evaluation has been obtained.


PEDIATRICS ◽  
1972 ◽  
Vol 49 (1) ◽  
pp. 149-149
Author(s):  
Doris Bartuska ◽  
Linda Vardaro

The report of Eller, et al. on the prognosis in newborn infants with X-chromosomal abnormalities prompts this note. Because of our interest in cytogenetic factors in carcinogenesis, a routine buccal smear for sex chromatin is performed on all our patients with amenorrhea or irregular vaginal bleeding. Recently a 26-year-old woman with dysmenorrhea and irregular periods was seen. She had a mass arising from the cervix which was subsequently diagnosed as an unusual exophytic type of squamous cell carcinoma.


BMJ ◽  
1963 ◽  
Vol 1 (5347) ◽  
pp. 1742-1742
Author(s):  
T. S. Davies
Keyword(s):  

PEDIATRICS ◽  
1966 ◽  
Vol 38 (6) ◽  
pp. 972-981
Author(s):  
José Carneiro Leāo ◽  
Mary L. Voorhess ◽  
Robert J. Schlegel ◽  
Lytt I. Gardner

Clinical and chromosomal studies are presented on nine preadolescent girls with XX/XO mosaicism, investigated because of short stature alone or in association with other complaints. Short stature was the sole reason for seeking medical advice in most of the cases and was the most important clue in making the diagnosis, since these patients do not have the "textbook picture" of Turner's syndrome. All nine patients were under the 3rd percentile for height. No lymphedema, web neck, or congenital heart disease was observed in the present series. The quantitative buccal smear for sex chromatin was found to be a useful preliminary screening test in indentifying these patients. The possibility of XX/XO mosaicism should be explored in all girls with unexplained short stature.


BMJ ◽  
1963 ◽  
Vol 1 (5344) ◽  
pp. 1541-1542 ◽  
Author(s):  
T. S. Davies
Keyword(s):  

1960 ◽  
Vol 04 (03) ◽  
pp. 369-375 ◽  
Author(s):  
E. H Braun ◽  
David B. Stollar

SummaryA case of haemophilia in a young white girl is described. There was a history of bleeding from birth. The thromboplastin generation test was grossly abnormal and A. H. G. levels were below 1%. Bleeding time and capillary morphology was within normal limits. Dental extraction after transfusion caused almost uncontrollable haemorrhage.A complete family history was obtained for four generations. There was no case of a “bleeder” amongst these.The girl’s apparent sex was confirmed by sex chromatin studies.


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