Temat: cytogenetic diagnosis - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: The quantitative PCR technique resolves ambiguities concerning a small rearrangement of human chromosome 6q12-13
Autorzy:: Nowacka, J
Helszer, Z.
Walter, Z.
Plucienniczak, A.
Kaluzewski, B.
Powiązania:: https://bibliotekanauki.pl/articles/2048327.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: duplication
chromosome
human chromosome
man
rearrangement
cytogenetic diagnosis
karyotype analysis
chromosome aberration
polymerase chain reaction
inversion
Źródło:: Journal of Applied Genetics; 2001, 42, 4; 541-545
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: A clinical, cytogenetic and molecular study in Prader-Willi patients
Autorzy:: Krajewska-Walasek, M
Popowska, E
Gutkowska, A
Bielinska, B
Chrzanowska, K
Rump, Z
Mospinek-Krasnopolska, M
Rysiewski, H
Powiązania:: https://bibliotekanauki.pl/articles/2046801.pdf
Data publikacji:: 1997
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: deletion
patient
cytogenetic deletion
diagnosis
chromosome 15
Prader-Willi syndrome
Opis:: 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.
Źródło:: Journal of Applied Genetics; 1997, 38, 2; 205-216
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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