Trisomy 22 and intersex.
نویسندگان
چکیده
Complete trisomy 22, with or without mosaicism, has been reported as a distinct syndrome. In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47,XX+22.
منابع مشابه
Legal Recognition of Intersex Persons; From Negative Recognition to Positive Recognition
Incontrovertibly each person’s body has an undeniable role in shaping personality and in self- definition of ego. Nowadays and based on scientific efforts, we know sex and accordingly, gender, as a spectrum in inter bodily experience. Over the long years intersex status was considered a "disorder", but recently and in the light of modern medical, psychiatric and cognitive science, "different" e...
متن کاملTrisomy 22 with 'cat eye' anomaly.
The case of a 10-month-old girl with an extra G-like chromosome is presented. Quinacrine, trypsin-Giemsa, and reverse banding identified the extra chromosome as no. 22. The phenotype of the patient is unique in that unilateral iris coloboma was observed, unlike the 18 cases of full trisomy 22 already published. This represents the first reported case of full trisomy 22 with this coloboma, or 'c...
متن کاملTrisomy 22 mosaicism.
A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.
متن کاملLive-born trisomy 22: patient report and review.
Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,...
متن کاملFamilial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.
A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and ...
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ورودعنوان ژورنال:
- Archives of disease in childhood. Fetal and neonatal edition
دوره 71 1 شماره
صفحات -
تاریخ انتشار 1994