Prader Willi Syndrome
Mostrando 13-24 de 77 artigos, teses e dissertações.
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13. Diagnosis in Prader-Willi syndrome.
Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi syndrome, especially in early infancy, should be made with ca
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14. 15/15 translocation in Prader-Willi syndrome.
Two further cases (one previously published as D/D translocation) of 15/15 translocation in Prader-Willi syndrome are reported, which brings the total cases of this specific chromosomal anomaly in connection with this specific syndrome up to three or possibly four. It is suggested that Prader-Willi syndrome might be caused by loss of short arm material of ch
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15. The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.
A case, diagnosed clinically as the Prader-Willi syndrome, was shown by Giemsa banding, to have a 15/15 chromosome translocation. A review of the literature indicates that such a translocation has only been described once before, in a normal woman, but that chromosme abnormalities in the Prader-Willi syndrome most commonly involve the D group. The significan
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16. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.
A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.
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17. The Prader-Willi syndrome with a 15/3 translocation.
A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by trypsin banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular hypotonia). The pathogenic role of chromosome 15 abnormalities in the aetiology of this syndr
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18. Prader-Willi syndrome.
Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are
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19. Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
A special subphenotype of the fragile X syndrome is reported which is characterised by extreme obesity with a full, round face, small, broad hands/feet, and regional skin hyperpigmentation. It resembles the Prader-Willi syndrome (PWS) and might therefore be named 'Prader-Willi-like'. Unlike the PWS, these PW-like fragile X patients lack the neonatal hypotoni
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20. A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.
A male proband is described who carries a de novo translocation between chromosomes Y and 15 associated with Prader-Willi syndrome. In situ hybridisation and molecular studies were used to show loss of the paternally derived 15q11q13 region in the translocated chromosome. Lack of further symptoms indicate that this region was lost with no apparent deletion o
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21. The Prader-Willi syndrome.
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22. Prader-Willi Syndrome: Selected Research and Management Issues
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23. Prader Willi Syndrome and Other Chromosome 15q Deletion Disorders
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24. A new case of Prader-Willi syndrome with chromosomal aberration.