856 NORMAL INTELLIGENCE IN CHILD WITH 46, XY, r18/45, XY,-18
نویسندگان
چکیده
منابع مشابه
Female with 46, XY karyotype
Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare c...
متن کامل46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.
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.
متن کاملRing F chromosome mosaicism (46,XY,20r-46,XY) in an epileptic child without apparent haematological disease.
they were present in the peripheral blood of the mother, they either did not survive for more than 4 weeks, or at least they disappeared from the circulation. They were not selected out in a long term leucocyte culture. The latter fact however is not surprising as we have been unable to detect the marker chromosome specific of the leukaemic cells in established long term leucocyte cultures in 1...
متن کامل46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis.
The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). One case was reported including clinical and laboratory findings of a child of 41-day-old infan...
متن کاملUnilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.
A 13 year old female presented with ambiguous external genitalia, right inguinal ovotestis, left ovary, apparently normal Mullerian system, and absent Wolffian system. Cultured lymphocytes showed a 46,XX/46,XY karyotype. Histopathology of the gonads confirmed true hermaphroditism. The presence of two genetically different erythrocyte populations was observed. The findings suggested that the pat...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1985
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198504000-00886