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Prenatal detection of maternal UPD15 in new case with i[15p] by Timing Replication Test [TRT] and methylation analysis

100%

Constantinou M., Kaluzewski B., Helszer Z., Zajac E., Nowacka J.

Journal of Applied Genetics

2003

tom 44

nr 2

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A clinical, cytogenetic and molecular study in Prader-Willi patients

100%

Krajewska-Walasek M., Popowska E., Gutkowska A., Bielinska B., Chrzanowska K., Rump Z., Mospinek-Krasnopolska M., Rysiewski H.

Journal of Applied Genetics

1997

tom 38

nr 2

Twenty-three patients with a putative diagnosis of Prader-Willi syndrome (PWS) were reassessed clinically and then examined by cytogenetic and molecular techniques. Nineteen patients fulfilled the diagnostic criteria for PWS and the remaining four were judged to have atypical PWS. Definite molecular defects were detected in all clinically typical PWS patients but one. A deletion of part of chromosome 15q could be identified molecularly in 14 patients (74%) and maternal disomy for chromosome 15 in four (21%). In all, except one, PWS patients with molecularly detected deletions, the deletion was also identified by cytogenetic studies. Cytogenetic deletions were suspected in two of the atypical PWS patients. However, based on the results of scoring the diagnostic criteria for PWS and on the PW71B methylation test, we were able to rule out PWS in all of our atypical patients. Our study confirms observations that both clinical and cytogenetic investigations can provide misdiagnoses of PWS in some patients, and the first, simple and fast investigation, which can confirm the PWS in most, if not all PWS patients, is molecular analysis by the methylation test.

Molecular versus classical cytogenetics - evaluation of 20 Prader-Willi syndrome patients

84%

Stankiewicz P., Lebiocka J., Szpecht-Potocka A., Bocian E., Stanczak H., Obersztyn E., Mazurczak T.

Journal of Applied Genetics

1997

tom 38

nr 2

Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contribution of the chromosome region 15q11.2-q13 arising from differently sized deletions, maternal disomy, or rarely imprinting mutations. We have analyzed 20 PWS patients using combined cytogenetic high resolution technique (HRT), fluorescence in situ hybridization (FISH) and molecular studies to identify parental origin (uniparental disomy) or molecular defect (deletion) of the Prader-Willi region. Lack of a paternal copy of 15q11.2-q13 resulting from its deletion was found in 16 patients. Using high resolution GTG banding on prometaphase chromosomes, deletion in the 15q11.2-q13 region was detected in only 8 patients. Application of FISH with different sets of PWS specific unique sequence probes (D15S11, SNRPN, D15S10, GABRß3) revealed microdeletions in 12 patients. In 12 out of 20 cases FISH confirmed HRT studies, while in 8 cases inconsistent results were obtained. No discrepancies between results of FISH and molecular studies were found, although the latter had a higher sensitivity. We conclude that FISH appears to be a rapid and reliable method of microdeletion identification and should be performed as a method of choice in cytogenetic diagnosis of Prader-Willi syndrome.

Ograniczanie wyników

3 Journal of Applied Genetics

1 Bielinska B.

1 Bocian E.

1 Chrzanowska K.

1 Constantinou M.

1 Gutkowska A.

1 Helszer Z.

1 Kaluzewski B.

1 Krajewska-Walasek M.

1 Lebiocka J.

1 Mazurczak T.

1 Mospinek-Krasnopolska M.

1 Nowacka J.

1 Obersztyn E.

1 Popowska E.

1 Rump Z.

1 Rysiewski H.

1 Stanczak H.

1 Stankiewicz P.

1 Szpecht-Potocka A.

1 Zajac E.

1 2003

2 1997

Wyniki wyszukiwania

Prenatal detection of maternal UPD15 in new case with i[15p] by Timing Replication Test [TRT] and methylation analysis

A clinical, cytogenetic and molecular study in Prader-Willi patients

Molecular versus classical cytogenetics - evaluation of 20 Prader-Willi syndrome patients