PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH

被引：0

作者：

Yakut, S. ^{[1
]}

Cetin, Z. ^{[2
]}

Sanhal, C. ^{[3
]}

Karauzum, S. B. ^{[1
]}

Karaman, B. ^{[4
]}

Simsek, M. ^{[3
]}

机构：

[1] Akdeniz Univ, Sch Med, Dept Med Biol & Genet, TR-07058 Antalya, Turkey

[2] SANKO Univ, Sch Med, Dept Med Biol, Gaziantep, Turkey

[3] Akdeniz Univ, Sch Med, Dept Obstet & Gynaecol, TR-07058 Antalya, Turkey

[4] Istanbul Univ, Dept Med Genet, Pediat Hlth Inst, Istanbul, Turkey

来源：

GENETIC COUNSELING | 2015年 / 26卷 / 03期

关键词：

Supernumerary marker chromosome; Chromosome; 16; Prenatal diagnosis; Genetic counseling; MOLECULAR CYTOGENETIC CHARACTERIZATION; COMPARATIVE GENOMIC HYBRIDIZATION; REARRANGEMENTS;

D O I：

暂无

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Prenatal diagnosis of de novo supernumerary marker chromosome originated from chromosome 16 by array-CGH: A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry. A non-satellited, monocentric marker chromosome was observed with a frequency of 50% in cultured anmiocytes. Parental karyotypes were normal. The marker chromosome was found to be derived from chromosome 16 by FISH and array-CGH analysis. Genetic counseling was given to parents and the family decided to terminate the pregnancy. Dysmorphic findings including; low set ears, exophtalmos depressed nasal bridge, large mouth and lips, posture anomalies at the extremities were detected at autopsy.

引用

页码：299 / 305

页数：7

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