Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report

Dr. A Karaman; B Karaman; A ??etinkaya; S Karaman; O Demirci

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Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report

机译：与头孢尔科肽相关的德诺源三元6Q和部分单体18P的产前诊断：案例报告

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A 28-year-old woman underwent amniocentesis at 18 weeksa?? gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeksa?? gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.

机译：一个28岁的女性在18周内接受羊膜穿刺术？在妊娠期胎儿颈部折叠和椎管型头皮内科对妊娠期妊娠时妊娠。产前微阵列显示DE Novo不平衡易位，导致6Q的增益和18P的损失。女性婴儿在38周内交付？妊娠。在出生时，Cephalocele和蹼颈部被指出为主要的疑似特征。此处提出的情况显示了如何使用不同遗传学研究的组合来准确地阐明产前环境中的染色体异常。

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《Balkan journal of medical genetics: BJMG》 |2020年第1期|共4页
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Dr. A Karaman; B Karaman; A ??etinkaya; S Karaman; O Demirci;
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18p MonosomyPrenatal diagnosis6q Trisomy;

机译：18P单核糖诊断6Q三重奏;

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1. Prenatal diagnosis of de novo partial trisomy 18p and partial monosomy 18q recurrent in a family with fatal aortic coarctation [J] . HuH., HaoJ., YaoH., Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2013,第1期

机译：致命性主动脉缩窄的家庭中从头诊断新发的18p三体性和18q部分性三体性复发
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机译：致命性主动脉缩窄的家庭中从头诊断新发的18p三体性和18q部分性三体性复发
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Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report

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