Sex chromosome mosaicism in males carrying Y chromosome long arm deletions
نویسندگان
چکیده
منابع مشابه
Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.
Deletions of the long arm of the Y chromosome have previously been associated with azoospermia and short stature. We report the results of a detailed clinical and molecular study of nine males with partial deletions of Yq. Special emphasis was laid on congenital anomalies and dysmorphic features. Some of the patients have developmental problems or distinct facial features, namely a small chin a...
متن کاملIsochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi).
In patients with structural aberrations of the sex chromosomes a direct relation has been found between the phenotype and the extent and site of sex chromosomal deletion (Ferguson-Smith, 1965,1969). Women with deletion of the short arm of the X chromosome invariably have short stature and streak gonads, and usually have several of the other malformations of Turner's syndrome, while those whoseX...
متن کاملIsochromosome for Long Arm of Y Chromosome in Patient with Turner ' s Syndrome and Sex Chromosome Mosaicism
In patients with structural aberrations of the sex chromosomes a direct relation has been found between the phenotype and the extent and site of sex chromosomal deletion (Ferguson-Smith, 1965,1969). Women with deletion of the short arm of the X chromosome invariably have short stature and streak gonads, and usually have several of the other malformations of Turner's syndrome, while those whoseX...
متن کاملIncreased sex chromosome expression and epigenetic abnormalities in spermatids from male mice with Y chromosome deletions.
During male meiosis, the X and Y chromosomes are transcriptionally silenced, a process termed meiotic sex chromosome inactivation (MSCI). Recent studies have shown that the sex chromosomes remain substantially transcriptionally repressed after meiosis in round spermatids, but the mechanisms involved in this later repression are poorly understood. Mice with deletions of the Y chromosome long arm...
متن کاملRecurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males.
Deletion of the 50f2/C (DYS7C) locus in interval 6 of Yq has previously been reported as a polymorphism in three males. We describe a survey of worldwide populations for further instances of this deletion. Of 859 males tested, 55 (approximately 6%) show absence of the 50f2/C locus; duplication of the locus was also detected in eight out of 595 males (approximately 1.4%). Populations having the ...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2000
ISSN: 1460-2350,0268-1161
DOI: 10.1093/humrep/15.12.2559