PRENATAL DIAGNOSIS OF A DE NOVO PARTIAL TRISOMY 6q AND PARTIAL MONOSOMY 18p ASSOCIATED WITH CEPHALOCELE: A CASE REPORT

被引：0

作者：

Karaman, A. ^{[1
]}

Karaman, B. ^{[2
]}

Cetinkaya, A. ^{[1
,3
]}

Karaman, S. ^{[4
]}

Demirci, O. ^{[5
]}

机构：

[1] Univ Hlth Sci, Zeynep Kamil Women & Children Training & Res Hosp, Genet Diag Ctr, Dr Burhanettin Ustunel St, Istanbul, Turkey

[2] IstanbulUniversity, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey

[3] Hacetepe Univ, Fac Med, Dept Med Genet, Ankara, Turkey

[4] Univ Hlth Sci, Umraniye Training & Res Hosp, Dept Anesthesia & Reanimat, Istanbul, Turkey

[5] Univ Hlth Sci, Zeynep Kamil Women & Children Training & Res Hosp, Perinatal Unit, Istanbul, Turkey

来源：

BALKAN JOURNAL OF MEDICAL GENETICS | 2020年 / 23卷 / 01期

关键词：

18p Monosomy; Prenatal diagnosis; 6q Trisomy; CHROMOSOMAL MICROARRAY; STRUCTURAL VARIATION; COPY NUMBER; REARRANGEMENTS; CHROMOTHRIPSIS; DYSTONIA; DELETION; PATIENT;

D O I：

10.2478/bjmg-2020-0014

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 28-year-old woman underwent amniocentesis at 18 weeks' 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 weeks' 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.

引用

页码：99 / 102

页数：4

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