Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects

Author:

Chen Chih-Ping,Chen Chen-Yu,Chern Schu-Rern,Wu Peih-Shan,Chen Shin-Wen,Wu Fang-Tzu,Chen Li-Feng,Wang Wayseen

Funder

Ministry of Science and Technology

MacKay Memorial Hospital

Publisher

Elsevier BV

Subject

Obstetrics and Gynaecology

Reference34 articles.

1. The 18p-, 18q- and 18r syndromes;de Grouchy;Birth Defect,1969

2. Chromosome 18, monosomy 18q;Greenberg,1990

3. The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2;Silverman;Am J Hum Genet,1995

4. Analysis of clinical variation seen in patients with 18q terminal deletions;Strathdee;Am J Med Genet,1995

5. Prenatal diagnosis of a deletion of 18q in a fetus associated with multiple-marker screen positive results;Chen;Prenat Diagn,1997

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