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Titolo:
Prenatal diagnosis of a de novo ring chromosome 11
Autore:
Mohamed, AN; Ebrahim, SA; Aatre, R; Qureshi, F; Jacques, SM; Evans, MI;
Indirizzi:
Wayne State Univ, Dept Pathol, Cytogenet Lab, Detroit, MI 48301 USA Wayne State Univ Detroit MI USA 48301 ytogenet Lab, Detroit, MI 48301 USA Wayne State Univ, Dept Obstet & Gynecol, Div Reprod Genet, Detroit, MI USAWayne State Univ Detroit MI USA necol, Div Reprod Genet, Detroit, MI USA Med Coll Penn & Hahnemann Univ, Dept Obstet & Gynecol, Philadelphia, PA USA Med Coll Penn & Hahnemann Univ Philadelphia PA USA Philadelphia, PA USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 102, anno: 2001,
pagine: 368 - 371
SICI:
0148-7299(20010901)102:4<368:PDOADN>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Keywords:
prenatal; chromosome; ring 11; clinical cytogenetics; FISH;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Mohamed, AN Wayne State Univ, Dept Pathol, Cytogenet Lab, Hutzel Prof Bldg,4727 St Antoine Blvd,Suite 411, Detroit, MI 48301 USA Wayne State Univ Hutzel Prof Bldg,4727 St Antoine Blvd,Suite 411 Detroit MI USA 48301
Citazione:
A.N. Mohamed et al., "Prenatal diagnosis of a de novo ring chromosome 11", AM J MED G, 102(4), 2001, pp. 368-371

Abstract

Ring chromosomes are uncommon findings in prenatal diagnosis. Growth retardation is the most significant manifestation, in particular among patients with rings of larger chromosomes. A 30-year-old gravida 1, para 0 white woman was referred for genetic counseling because of maternal anxiety. Cytogenetic analysis of amniotic fluid cells at 16 weeks gestation revealed an abnormal mosaic female chromosome complement; 46,XX,r(11)(p15q25)[14]/45,XX,-11[7]. The ring 11 showed no detectable loss of chromosomal material at 450 band level. Both parents had a normal karyotype. Fluorescence in situ hybridization demonstrated intact subtelomeric regions in the ring chromosome. Atargeted ultrasound evaluation at the time of consultation suggested no significant abnormalities. The parents were counseled and subsequently decided to terminate the pregnancy. The autopsy revealed an immature female fetuswith abnormal craniofacial features including brachycephaly, low-set ears and hypertelorism, bicornuate uterus, and calcifications in the renal tubules. The abnormal phenotypes could be a consequence of the ring instability,submicroscopic deletion, and/or alteration of genetic material at the siteof fusion. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 16:10:05