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Titolo:
Prenatal diagnosis of inherited satellited non-acrocentric chromosomes
Autore:
Chen, CP; Devriendt, K; Chern, SR; Lee, CC; Wang, WS; Lin, SP;
Indirizzi:
Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan Mackay Mem Hosp Taipei Taiwan sp, Dept Obstet & Gynecol, Taipei, Taiwan Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium Katholieke Univ Leuven Louvain Belgium tr Human Genet, Louvain, Belgium Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan Mackay Mem Hosp Taipei Taiwan ay Mem Hosp, Dept Med Res, Taipei, Taiwan Natl Yang Ming Univ, Taipei 112, Taiwan Natl Yang Ming Univ Taipei Taiwan 112 Yang Ming Univ, Taipei 112, Taiwan Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan Mackay Mem Hosp Taipei Taiwan kay Mem Hosp, Dept Pediat, Taipei, Taiwan
Titolo Testata:
PRENATAL DIAGNOSIS
fascicolo: 5, volume: 20, anno: 2000,
pagine: 384 - 389
SICI:
0197-3851(200005)20:5<384:PDOISN>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKED MENTAL-RETARDATION; WOLF-HIRSCHHORN SYNDROME; X-CHROMOSOME; XQ28; TRANSLOCATION; REGION; GENE; LOCALIZATION; INACTIVATION; FAMILIES;
Keywords:
cryptic translocation; fluorescence in situ hybridization (FISH); prenatal diagnosis; satellited non-acrocentric chromosomes; X-linked mental retardation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Chen, CP Mackay Mem Hosp, Dept Obstet & Gynecol, 92 Sect,2 Chung Shan N Rd, Taipei,Taiwan Mackay Mem Hosp 92 Sect,2 Chung Shan N Rd Taipei Taiwan ,Taiwan
Citazione:
C.P. Chen et al., "Prenatal diagnosis of inherited satellited non-acrocentric chromosomes", PRENAT DIAG, 20(5), 2000, pp. 384-389

Abstract

We report on the prenatal diagnosis of two sib female fetuses with a satellited short arm of chromosome 4 and a male fetus with a satellited long armof chromosome X. The first two fetuses had a cryptic balanced translocation (4;15)(p16;p11.1) inherited from a mother carrying a satellited 4p and having an affected child with the Wolf-Hirschhorn syndrome. The third fetus had a satellited Xq, with a deletion of subtelomeric region of Xq. The mother was subsequently found to have the same satellited Xq but without the presence of a reciprocal translocation. She decided to continue the pregnancy. The proband with a satellited Xq manifested developmental delay, mental retardation, hypertelorism, ptosis of one eye, low-set ears, and hearing disturbance at age 6 months. Fluorescence in situ hybridization (FISH) with a specific telomeric or subtelomeric probe, and genetic marker analyses were used to confirm the diagnosis. Pregnant women with satellited non-acrocentric chromosomes are at risk for carrying fetuses with chromosome abnormalities. If the X chromosome is involved, the fetuses can be affected with X-linked recessive disorders including mental retardation. Detailed genetic counselling, cytogenetic studies, FISH and genetic marker analyses are useful inprenatal detection of abnormal chromosome rearrangements. Copyright (C) 2000 John Wiley & Sons, Ltd.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/09/20 alle ore 16:12:33