Ankara Üniversitesi Tıp Fakültesi Mecmuası 0365-8104 1307-5608 Ankara University Obstetrics and Gynaecology Kadın Hastalıkları ve Doğum A Case of Sex Chromosome Disorder Associated with Combined Uterine and Vaginal Aplasia Sex kromozom düzensizliği ile asosiyeli kombine uterus ve vajen aplazisi vakası Yavuz Hikmet ANKARA UNIVERSITY, ANKARA FACULTY OF MEDICINE 03 31 1973 26 1 194 204 01 01 1973 02 28 1973 Copyright © 1947, Ankara Üniversitesi Tıp Fakültesi Mecmuası 1947 Ankara Üniversitesi Tıp Fakültesi Mecmuası

Karyotip olarak 46 XX kromozom yaplsma qahip, fakat X kromozomlarmdan birinde uzun kol klsallžl ve bam kromatinlerde de küçüklük ile asosiye kombine bir uterus ve vagen aplazi vakasl sunulmustur. Vakamn özelliži literatürdekilerle karsl\astmlarak tartl§llrms ve simdiye kadar yaymlanml§ olanlardan farkll özelliklere sahip orijinal bir vaka oldužu sonucuna varllnustlr.

A Case of and Uteñne Aplasla Associated With sdx Chromosome AbnormalityA case is presented in which there werevaginal and uteral aplasia with 46 XX karyotype but one of the X chromosomes had long arm shortness and some of the sexchromatins were small. The characteristics of the case is discussed by comparing with the ones in the litterature pnd it is cometo conclusion hat he case has different characterisics from the ones that were established tüll

 Histopathological examination Shortening of the long arm of the X chromosome Sex chromatin positivity Histopatolojik inceleme X kromozomu uzun kol kısalığı Seks kromatin pozitifliği I — CARR, D. H. : Chromosomal abnormalities in Clinical Medicine. Cited in (Progress in Medical Genetics). Vol : VI Ed. A. G. Steinberg, A.G. Bearn. Green ve Stratton. New York, 1969. 2— FERGUSON - SMtTH, M.A.: The prepubertal testicular lesion in chromatio positive Klinefelter's Syndrome (primary micro-orchidism) as seen in mentally handicapped children. Lancet 1 : 219, 1959. 3— GROPP, A., VON KROStGK, H., ODUNJO, F., ZANDER. 1., KERN, n, BUNTRU, G. : Chromosomenmosaike bei primarer amenorrhoe. Klin. Wschr. 41 : 345, 1963. 4— GROUCHY, J., LAMY, M., YANEVA, H., SALOMON, Y., NETTER, A. : Further abnormalities of the X chromosomes in primary amenorrhea or in severe oligomenorrhea. Lancet, 777,1961. 5— JACOPS, P.A., HARDEN, D.C., COURT BROWN, W. M., GOLDSTEIN, J., CLOSE, H. G., MAC GREGOR, T. N., MAC LEAN, STRONG, J. A.: Abnormalities involving the X chromosome in women. Lancet, 1213, 1960. 6— LINDSTEN, J. : The nature and origin of X chromosome aberrations in Turner's syndrome. I Vol. Almgvist en Wiksells. Uppsala, 1963. 7 — STEVENSON, A.C.: Applicatione of chromosome studies in Dbstctrics and Gynaecology. Vited in Recent Aduanceş in Obstetrics and Gynaecology (J. Stallworthy and G. Bowne), 2. Baskı. Littlej Broivn and Comp. Boston, 1966. 8— Saylı, B. S.: Teorik ve klinik sitogenetik. Z Baskı. A. Ü. Tıp Fak. Yayınlarmdan. Sayı : 256. A. Ü. Basımevi, Ankara, 1972. 9— TURPİN, R., LE JEUNE, J.: Les chromosomes humalns (Caryotype normal et varlations pathologlques). Gauthler - Villars, Paris, 1965. 10-WYK, J. GRUMBACH, Ti. M.: Disorders of differentiation. Textbook of Endocrinology (R. H, Williams) 4. Baskı, W. B. Saunders Comp. Philadeıphia, 1968.