46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.
نویسندگان
چکیده
An infant with neutropenia, properdin deficiency, and a 46,XY/46,XY,21q- mosaicism is described. It is not known whether these two findings are related to the missing 21q material. The propositus is normal in appearance, and has none of the phenotypic features associated with the G-group deletion syndromes.
منابع مشابه
Agenesis 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 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...
متن کاملJ 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 کاملCardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism
CONTEXT The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY. OBJECTIVE To investigate cardiovascular abnormalities in 45,X/46,XY mal...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 13 4 شماره
صفحات -
تاریخ انتشار 1976