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Titolo:
A case with balanced chromosome rearrangement involving chromosomes 9, 14,and 13 in a woman with recurrent abortion
Autore:
Kim, SK; Kim, HJ; Yang, YH; Kim, IK; Bai, SW; Kim, JY; Park, KH; Cho, DJ; Song, CH;
Indirizzi:
Yonsei Univ, Coll Med, Dept Obstet & Gynecol, Seoul 120752, South Korea Yonsei Univ Seoul South Korea 120752 Gynecol, Seoul 120752, South Korea Ajou Univ, Sch Med, Dept Clin Genet, Suwon 441749, South Korea Ajou Univ Suwon South Korea 441749 Clin Genet, Suwon 441749, South Korea
Titolo Testata:
YONSEI MEDICAL JOURNAL
fascicolo: 3, volume: 42, anno: 2001,
pagine: 345 - 348
SICI:
0513-5796(200106)42:3<345:ACWBCR>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
MOLECULAR ANALYSIS; COMPLEX; BREAKPOINTS;
Keywords:
balanced complex chromosome rearrangement; fluorescence in situ hybridization;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Kim, SK Yonsei Univ, Coll Med, Dept Obstet & Gynecol, CPO Box 8044, Seoul 120752, South Korea Yonsei Univ CPO Box 8044 Seoul South Korea 120752 52, South Korea
Citazione:
S.K. Kim et al., "A case with balanced chromosome rearrangement involving chromosomes 9, 14,and 13 in a woman with recurrent abortion", YONSEI MED, 42(3), 2001, pp. 345-348

Abstract

A phenotypically normal couple was referred for cytogenetic evaluation dueto three consecutive first-trimester spontaneous abortions. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding technique. The husband's karyotype was normal. The wife's karyotype showed a balanced complex chromosome rearrangement (CCR)involving chromosomes 9,14, and 13. There were three breakpoints: 9p21.2, 14q21, and 13q12.2. The karyotype was designated as 46, XX, t (9;14;13)(p21.2;q21; q12.2). Fluorescence in situ hybridization (FISH) analysis with chromosome-specific libraries of chromosomes 9,14, and 13 was performed to confirm this rare chromosome rearrangement. The result of FISH coincided with that obtained by standard cytogenetic techniques.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 13:28:42