Klinefelter's syndrome and G trisomy.
نویسندگان
چکیده
منابع مشابه
Diagnosis of genetic defects by chromosomal analysis.
Of 901 karyotypes performed over a period of 4 years, genetic anomalies were detected in 162 cases. Down's syndrome (trisomy 21) was the most common (168.8%) genetic disorder followed by Turner's syndrome, Philadelphia chromosome, Klinefelter's syndrome, Edward's syndrome (trisomy 18) and Patau's syndrome (trisomy 13). All the three trisomies were detected very early in life. Mean age at the ti...
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A child is described with a previously unreported probable trisomy for a segment of the long arm of chromosome 17 responsible for some distinct clinical features. These include craniofacial and skin abnormalities, failure to thrive, partial malrotation of the gut, malabsorption, gastro-oesophageal reflux, neurodevelopmental delay, autonomic disturbance, and cardiac and CNS abnormalities. The co...
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A number of associations have been suggested between neoplastic disease and conditions known to have abnormalities of the chromosomes. The association between Down's syndrome (trisomy 21) and malignancy is well documented (Stewart, Webb, and Hewitt, 1958; Holland, Doll, and Carter, 1962) and that between gonadal neoplasms and females with a Y chromosome in at least some cells is widely accepted...
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Down's syndrome in association with various other chromosomal disorders such as Klinefelter's, Turner's, trisomy 15, and triple X (Penrose and Smith, 1966), are well known. Other combinations of Down's syndrome with various metabolic disorders (e.g. hypothyroidism and diabetes mellitus (Daniels and Simon, 1968)) have also been reported. An unusual patient was recently seen at Columbus Children'...
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THE CONGENITAL chromosomal syndromes are those in which an implied, but unproved, causal relationship exists between microscopically detectable chromosomal aberrations and congenital malformations and biochemical abnormalities. Precise pathogenetic mechanisms giving rise to these congenital defects are unknown, but it is probable that they ultimately derive from the quantitative imbalance impos...
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عنوان ژورنال:
- Journal of medical genetics
دوره 8 3 شماره
صفحات -
تاریخ انتشار 1971