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Titolo:
Prenatal diagnosis of Smith-Magenis syndrome (del 17p11.2)
Autore:
Thomas, DG; Jacques, SM; Flore, LA; Feldman, B; Evans, MI; Qureshi, F;
Indirizzi:
Wayne State Univ, Hutzel Hosp, Sch Med, Dept Pathol, Detroit, MI 48201 USAWayne State Univ Detroit MI USA 48201 Dept Pathol, Detroit, MI 48201 USA
Titolo Testata:
FETAL DIAGNOSIS AND THERAPY
fascicolo: 6, volume: 15, anno: 2000,
pagine: 335 - 337
SICI:
1015-3837(200011/12)15:6<335:PDOSS(>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
INTERSTITIAL DELETION; (17)(P11.2P11.2);
Keywords:
chromosome 17; microdeletion 17p11.2; Smith-Magenis syndrome; prenatal diagnosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Qureshi, F Wayne State Univ, Hutzel Hosp, Sch Med, Dept Pathol, 4707 St Antoine Blvd,Detroit, MI 48201 USA Wayne State Univ 4707 St Antoine Blvd Detroit MI USA 48201 USA
Citazione:
D.G. Thomas et al., "Prenatal diagnosis of Smith-Magenis syndrome (del 17p11.2)", FETAL DIAGN, 15(6), 2000, pp. 335-337

Abstract

Smith-Magenis syndrome is associated with a microdeletion of the short armof chromosome 17 with phenotypic abnormalities including dysmorphic facies, self-injurious behavior, mental and neurologic disturbances, and congenital cardiac defects. The majority of patients present in mid-childhood or adulthood. We describe a fetus in which the diagnosis of Smith-Magenis syndrome was made at 16 weeks of gestation following amniocentesis for increased risk for Down syndrome detected by second-trimester maternal serum screening. Ultrasound evaluation revealed multiple fetal anomalies. The pregnancy was terminated at 20 weeks of gestation. Postmortem findings included dysmorphic facial features, tetralogy of Fallot, a thymic duct remnant, pancreatic islet cell hyperplasia, and abnormal lung fissuring. This represents the second case of prenatally diagnosed Smith-Magenis syndrome. Molecular genetic techniques in the diagnosis of the Smith-Magenis syndrome and other small deletions are becoming an important tool in the genetic evaluation of ultrasound abnormalities. Copyright (C) 2000 S. Karger AG, Basel.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 20:50:19