{"id":1508,"date":"2018-09-05T16:26:54","date_gmt":"2018-09-05T16:26:54","guid":{"rendered":"http:\/\/www.ijmhr.org\/IntJAnatRes\/?page_id=1508"},"modified":"2018-09-05T16:29:57","modified_gmt":"2018-09-05T16:29:57","slug":"ijar-2018-310","status":"publish","type":"page","link":"https:\/\/www.ijmhr.org\/IntJAnatRes\/ijar-2018-310","title":{"rendered":"IJAR.2018.310"},"content":{"rendered":"
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Type of Article:<\/strong>\u00a0\u00a0Original Research<\/h3>\n

Volume 6; Issue 3.3 (Septmber 2018)<\/strong><\/h3>\n

Page No.:<\/strong>\u00a05682-5685<\/h3>\n

DOI:\u00a0<\/strong>https:\/\/dx.doi.org\/10.16965\/ijar.2018.310<\/h3>\n

APPLICATION OF KARYOTYPING AND FLOURESCENT IN SITU HYBRIDISATION IN DETECTION OF KLINEFELTER SYNDROME<\/h3>\n

Anjali\u00a0 Shastry *1<\/sup>, Preetha Tilak 2<\/sup>, Amudha Subramaniam 3<\/sup>.<\/strong><\/p>\n

*1<\/sup> Tutor, Department of Anatomy, St Johns Medical College, Bangalore, Karnataka, India.<\/p>\n

2<\/sup> Junior consultant, Department of Anatomy, \u00a0St Johns Medical College, Bangalore, Karnataka, India.<\/p>\n

3<\/sup> Tutor, Department of Anatomy, St Johns Medical College, Bangalore, Karnataka, India.<\/p>\n

Address for Correspondence:<\/strong> Dr. Anjali\u00a0 Shastry, Tutor, Department of Anatomy, St Johns Medical College, Bangalore, Karnataka, India. E-Mail:<\/strong> anju_shas@yahoo.com<\/p>\n

ABSTRACT:<\/strong><\/p>\n

Introduction:<\/strong> Klinefelter Syndrome is one of most common sex chromosomal abnormality in males with incidence of 1 in 600 live births. Fluorescence in situ hybridization (FISH) is a powerful molecular cytogenetic technique which allows rapid detection of aneuploidies on interphase cells and metaphase spreads along with conventional GTG banding technique.<\/p>\n

Aims and objectives: <\/strong>To evaluate application of karyotyping and FISH as important diagnostic tool in diagnosis Klinefelter Syndrome.<\/p>\n

Materials and Methods:<\/strong> A retrospective study was conducted on 44 patients who were referred for karyotyping and counselling with suspected Klinefelter Syndrome and hypogonadism to Division of Human Genetics, Department of Anatomy, St. John\u2019s Medical College, Bangalore from January 2014 to October 2017. Chromosomal preparations were done using the peripheral lymphocyte culture method followed by GTG banding technique, automated photography and karyotyping.<\/p>\n

FISH was performed with dual colour X\/Y probes once abnormality was detected using GTG banding technique.<\/p>\n

Results: <\/strong>Out of 44 patients, 9 had typical karyotype of Klinefelter syndrome (47,XXY) and Four\u00a0 had variants of Klinefelter syndrome<\/p>\n

Conclusion:\u00a0 <\/strong>We can conclude that cytogenetic analysis forms important investigation in diagnosis , treatment and fertility status\u00a0 in patients with Klinefelter syndrome.<\/p>\n

KEY WORDS: <\/strong>Fluorescence in situ hybridization (FISH), Klinefelter Syndrome,\u00a0 Sex chromosome, Cytogenetic technique.<\/p>\n

REFERENCES<\/strong><\/p>\n

    \n
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  2. Mandoki MW,Sumner GS,\u00a0Hoffman RP,\u00a0Riconda DL.A review of Klinefelter’s syndrome in children and adolescents. J Am Acad Child Adolesc Psychiatry.\u00a01991 Mar;30(2):167-72.<\/li>\n
  3. Fruhmesser A,Kotzot D. Chromosomal variants in klinefelter syndrome. Sex Dev.\u00a02011;5(3):109-23.<\/li>\n
  4. Tartaglia N,Ayari N,\u00a0Howell S,\u00a0D’Epagnier C,\u00a0Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr.\u00a02011 Jun;100(6):851-60.<\/li>\n
  5. Hanley, A. P., Blumenthal, J. D., Raitano Lee, N., Baker, E. H., Clasen, L. S., & Giedd, J. N. Brain and behavior in 48, XXYY syndrome.NeuroImage\u202fClin,\u00a0 2015;8:133\u2013139.<\/li>\n
  6. Hwang, K., Weedin, J. W., & Lamb, D. J. The use of fluorescentin situ\u00a0hybridization in male infertility.\u00a0Therapeutic Advances in Urology,\u00a02010;2(4), 157\u2013169.<\/li>\n
  7. Karimi H,Sabbaghian M,\u00a0Haratian K,\u00a0Vaziri Nasab H,\u00a0Farrahi F,\u00a0Moradi SZ,\u00a0Tavakolzadeh T,\u00a0Beheshti Z,\u00a0Gourabi H,\u00a0Meybodi AM.A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH. Int J Fertil Steril.\u00a02014 Jul;8(2):221-4. Epub 2014 Jul 8.<\/li>\n
  8. Maske GL, Kannamwar AD. Klinefelter\u2019s syndrome in azoospermic infertile males of Vidarbha region, Central India. Int J Res Med Sci 2016;4:1045-50.<\/li>\n
  9. Peet, J., Weaver, D. D., & Vance, G. H. (1998). 49,XXXXY: a distinct phenotype. Three new cases and review.Journal of Medical Genetics, 1998;35(5):420\u2013424.<\/li>\n
  10. Blumenthal JD,Baker EH,\u00a0Lee NR,\u00a0Wade B,\u00a0Clasen LS,\u00a0Lenroot RK,\u00a0Giedd\u00a0\u00a0\u00a0 Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study. Neuroimage Clin.\u00a02013;2:197-203.<\/li>\n<\/ol>\n

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    \n \t Cite this article:<\/strong><\/span> Anjali Shastry, Preetha Tilak, Amudha Subramaniam. STUDY OF CORRELATION OF LIVER SIZE WITH HEIGHT IN NORTH-EAST KARNATAKA CHILDREN BY ULTRASONOGRAPHY. Int J Anat Res 2018;6(3.3):5682-5685.\u00a0DOI:\u00a0<\/strong>10.16965\/ijar.2018.310\u00a0 \n <\/div>\t\n\t\t\n","protected":false},"excerpt":{"rendered":"

    Type of Article:\u00a0\u00a0Original Research Volume 6; Issue 3.3 (Septmber 2018) Page No.:\u00a05682-5685 DOI:\u00a0https:\/\/dx.doi.org\/10.16965\/ijar.2018.310 APPLICATION OF KARYOTYPING AND FLOURESCENT IN SITU HYBRIDISATION IN DETECTION OF KLINEFELTER SYNDROME Anjali\u00a0 Shastry *1, Preetha Tilak 2, Amudha Subramaniam 3. *1 Tutor, Department of Anatomy, St Johns Medical College, Bangalore, Karnataka, India. 2 Junior consultant, Department of Anatomy, \u00a0St Johns
    + Read More<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/pages\/1508"}],"collection":[{"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/comments?post=1508"}],"version-history":[{"count":1,"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/pages\/1508\/revisions"}],"predecessor-version":[{"id":1509,"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/pages\/1508\/revisions\/1509"}],"wp:attachment":[{"href":"https:\/\/www.ijmhr.org\/IntJAnatRes\/wp-json\/wp\/v2\/media?parent=1508"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}