Normal male development with Y chromosome long arm deletion (Yq-).
نویسندگان
چکیده
منابع مشابه
Normal male development with Y chromosome long arm deletion (Yq-).
(1972). Identifications of reciprocal translocation chromosomes by quinacrine fluorescence.cence patterns of the human metaphase chromosomes-distinguishing characters and variability. Hereditas, Genetiskt Arkiv, 67, 89-102. in the 13-15 group as a cause of partial trisomy and spontaneous abortion in the same family. (1960). Multiple congenital anomaly caused by an extra auto-some. Lancet, 1, 79...
متن کاملDeletion of the long arms of the Y chromosome with normal male development and intelligence.
woman of4 ft 11 in. in height. Her facies showed typical Crouzon deformities of beaked nose, hypertelorism, moderate ocular proptosis, and maxillary hypoplasia (Fig. 1). The skull showed residual acrocephaly modified by previous cranioplasties. Examination of the back revealed a double primary scoliosis with mild right thoracic and left lumbar rotation. There was a valgus deformity of 100 at th...
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 ...
متن کاملMicrodeletions on the long arm of the Y chromosome and their association with male-factor infertility.
Significant advances in treatment have enabled previously infertile males to achieve fatherhood, when only a few years ago they would have had no chance of biological paternity. In contrast to the overall success of assisted reproduction, the aetiology of male-factor infertility is poorly understood. Recent studies have shown, however, that a significant proportion of men with severe infertilit...
متن کاملInterstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
We report a 16 year old boy with the abnormal karyotype 46,XY,del(2)(q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive scalloped skin pigmentation, and normal levels of isocitrate dehydrogenase.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1972
ISSN: 1468-6244
DOI: 10.1136/jmg.9.3.373