XO/XY mosaicism in phenotypic males.
نویسندگان
چکیده
Eight cases of 45 XO/46 XY mosaicism are described: four were phenotypic males. Karyotyping should be performed more frequently in short boys as growth hormone treatment and testicular biopsy, to screen for carcinoma in situ, are likely to be beneficial.
منابع مشابه
A patient with 45XO-48XYYY mosaicism.
Many cases of chromosomal mosaicism of the XO/XY type have been described. The phenotype of these patients has shown a wide diversity. In a recent review of 19 published cases in which the XO/XY sex chromosome pattern was established (Jackson, Hoffman, and Makda, 1966), 14 were apparently female and 5 male. The occurrence of XO/XYY mosaicism has been reported less often. Jacobs, Harnden, Buckto...
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 کاملHigh resolution whole brain imaging of anatomical variation in XO, XX, and XY mice
The capacity of sex to modify behavior in health and illness may stem from biological differences between males and females. One such difference--fundamental to the biological definition of sex--is inequality of X chromosome dosage. Studies of Turner Syndrome (TS) suggest that X-monosomy profoundly alters mammalian brain development. However, use of TS as a model for X chromosome haploinsuffici...
متن کامل45,X/46,XY mosaic patients exhibit a wide phenotyp- ic spectrum, ranging from normal females and females with Turner syndrome and normal males with mild hypospadias, to male or female pseudohermaphroditism (1). Prenatally diagnosed cases of 45,X/46,XY mosaicism
45,X/46,XY mosaic patients exhibit a wide phenotypic spectrum, ranging from normal females and females with Turner syndrome and normal males with mild hypospadias, to male or female pseudohermaphroditism (1). Prenatally diagnosed cases of 45,X/46,XY mosaicism represent an unbiased group. In over 90% of this group a normal male phenotype has been found. However, the postnatal diagnosis group is ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 65 8 شماره
صفحات -
تاریخ انتشار 1990