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대한생식의학회지 제26권 제1호 2010년
Klinefelter 증후군 및 Y염색체 이상으로 진단된 환자들의 염색체 결과 및 임상 양상
서울대학교 의과대학 산부인과학교실1, 의학연구원 인구의학연구소2
문신용1,2, 최석태1, 고희정2, 오선경2, 서창석1, 김석현1, 최영민1, 김정구1, 이진용1,
Cytogenetic study and clinical features in patients with Klinefelter's syndrome and Y chromosomal abnormalities
Moon sy, Choi st, Ko hj, Oh sk, Suh cs, Kim sh, Choi ym, Kim jg, Lee jy
Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analyses at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows : 1. In a total of 9275 cases, there were 303 cases (3.3 %) of Klinefelter's syndromes, 11 cases (0.1 %) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99 %) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4 %) of 47,XXY complement, 16 cases (5.3 %) of mosaicism, 2 cases (0.7 %) of 48,XXXY, 5 cases (1.7 %) of 48,XXYYand 3 cases (1.0 %) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7 %) of them were diagnosed after puberty and only 19 cases (6.3 %) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2 %) of patients with infertility-associated chief complaints, 101 cases (33.3 %) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3 %) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.
키워드 : Karyotyping, Klinefelters syndrome, Y chromosomal abnormalities, Polysomy Y, Mosaicism
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