Disorder of Sexual Development with Sex Chromosome Mosaicism 46 XY and 47 XXY
نویسندگان
چکیده
منابع مشابه
Presumptive 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 کاملAgenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.
A case of agenesis of the corpus callosum with a chromosomal abnormality is reported. The patient was a male infant, born to phenotypically normal, non-consanguineous parents. He had an abnormal phenotype, mental retardation, and chromosome mosaicism 46,XY/47,XY,+r. Chromosomal analysis of both parents showed a normal karotype. The origin of the small ring chromosome could not be determined and...
متن کاملAssessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype.
Sex chromosome aneuploidy was assessed in spermatozoa from a 47,XXY male and a 46,XY/47,XXY male using three colour fluorescence in-situ hybridization (FISH) and compared with two control groups. The first group included subjects of proven fertility and the second infertile males with normal constitutional karyotype. The frequencies of XX and YY disomic, XY hyperhaploid and diploid spermatozoa ...
متن کاملOvotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype.
Ovotesticular disorder of sexual development (DSD) is characterized by the presence of both ovarian and testicular tissues in the same individual. The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy. A 5-month-old boy presented with hypospadias, unilateral cryptorchidism, and a micropenis. Pelvic ma...
متن کاملJ 7 ournal of Medical Genetics ( 1971 ) . 8 , 117 . Presumptive 46 , XX / 46 , XY / 47 , XXY Mosaicism in a
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...
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ژورنال
عنوان ژورنال: International Journal of Infertility & Fetal Medicine
سال: 2013
ISSN: 2229-3817,2229-3833
DOI: 10.5005/jp-journals-10016-1058