J 7 ournal of Medical Genetics ( 1971 ) . 8 , 117 . Presumptive 46 , XX / 46 , XY / 47 , XXY Mosaicism in a
نویسنده
چکیده
Contrary to the expected XX/XY sex chromosome complements in hermaphroditism, a variety of karyotypes have been reported instead. Dewhurst et al. (1965) summarized from published reports the karyotypic findings in 27 patients with convincing evidence ofhermaphroditism, as follows: 46,XX (17); 46,XY (2); 46,XX/47,XXX (1); 46,XX/46,XX + Frag (1); 46,XX/46,XY (3); 46,XX/47,XXY/ 49,XXYYY (1); 46,XX/47,XXY (1); 46,XX/ 48,XXYY (1); 46,XY/45,X (1); and also described a patient of theirs with 46,XX + Frag/45,X mosaicism. Ribas-Mundo and Prats (1965) reported a hermaphrodite with mosaicism consisting of 3 cell lines, 46,XX/46,XY/47,XXY. The present paper reports the second case.
منابع مشابه
J 7 ournal of Medical Genetics ( 1971 ) . 8 , 117 . Presumptive 46 , XX / 46 , XY / 47 , XXY Mosaicism in a Hermaphrodite AMALA
Contrary to the expected XX/XY sex chromosome complements in hermaphroditism, a variety of karyotypes have been reported instead. Dewhurst et al. (1965) summarized from published reports the karyotypic findings in 27 patients with convincing evidence ofhermaphroditism, as follows: 46,XX (17); 46,XY (2); 46,XX/47,XXX (1); 46,XX/46,XX + Frag (1); 46,XX/46,XY (3); 46,XX/47,XXY/ 49,XXYYY (1); 46,XX...
متن کاملPresumptive 46,XX-46,XY-47,XXY mosaicism in a hermaphrodite.
Contrary to the expected XX/XY sex chromosome complements in hermaphroditism, a variety of karyotypes have been reported instead. Dewhurst et al. (1965) summarized from published reports the karyotypic findings in 27 patients with convincing evidence ofhermaphroditism, as follows: 46,XX (17); 46,XY (2); 46,XX/47,XXX (1); 46,XX/46,XX + Frag (1); 46,XX/46,XY (3); 46,XX/47,XXY/ 49,XXYYY (1); 46,XX...
متن کاملHermaphrodite with Mosaic
SIR,-In a recent review de Grouchy 1 compiles the following karyotypes described in true hermaphroditism: 46 XX, 46 XY, 46 XX/46 XY, 45 XO/46 XY, 46 XX/47 XXY, 46 XX/47 XXX, 46 XX/46 XY/45 XO, 46 XX/47 XXY/ 49 XXYYY, and 45 XO/46 X isoY/47 XY isoY. We have studied the chromosomes of a true hermaphrodite with a new mosaicism, 46 XX/46 XY/47 XXY, which might throw some light on the possible multi...
متن کاملCytogenetic studies in amenorrhea.
OBJECTIVE To study the frequency of the chromosomal abnormality (CA), referred for karyotyping, and counseling in individuals with primary amenorrhea (PA) and secondary amenorrhea (SA). METHODS We report on a retrospective survey of 865 women with amenorrhea (620-PA and 245-SA) at the Division of Human Genetics, Department of Anatomy, St. John's Medical College, Bangalore, India from 1973 to ...
متن کاملResults and pitfalls in prenatal cytogenetic diagnosis.
Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results ofthe affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1 :47,XX,+21); (2) advanced maternal age: 54 cases (1 :47,XXY; 1 :45,X/46,XY mosaicism...
متن کامل