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核型45,X/47,XYY嵌合体女性表型一例报告 被引量:1

A 45, X/47, XYY Mosaicism in a Phenotypic Female Hermaphrodite
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摘要 45,X/47,XYY嵌合体比较少见,六十年代初Jacobs(1961),Cooper(1962),Trowell(1965),Mulcahy(1977)等先后报道。我国丘建春等1981年初次报告1例。我院于1982年专科门诊发现1例,报告如下。 A 14-year old girl with 45, X/47, XYY is reported in this paper. She has had primary amenorrhea and failure of appearance of secondary sexual characteristics. Her phenctype has been apparently a female, but she has an enlarged clitoris and short beard. Revealed from laparotcmy, she has a streak ovary on the right side and testis dysgenesis on the left side in the position cf the ovary. However, bilateral Fallopian tubes are present. Clinical diagnosis indicates this as a true hermaphrcditism.Dermatoglyphic examination shows a total finger ridge count (TFRC) cf 194; the a-b ridge count (a-b RC) is 91 for both hands, and whorls are found on all ten fingertips cf the patient.The cause of chromosomal mosaicism and some problems concerned are briefly discussed.
出处 《华中科技大学学报(医学版)》 CAS 1983年第2期131-133,209,共4页 Acta Medicinae Universitatis Scientiae et Technologiae Huazhong
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