Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report-Reference-Cited by-同舟云学术

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

Published:2020-06-01 Issue:1 Volume:23 Page:99-102
ISSN:1311-0160
Container-title:Balkan Journal of Medical Genetics
language:en
Short-container-title:

Author:

Karaman A¹,Karaman B²,Çetinkaya A¹³,Karaman S⁴,Demirci O⁵

Affiliation:

1. Genetics Diagnosis Center, University of Health Sciences, Zeynep Kamil Women and Children Training and Research Hospital , Istanbul , Turkey

2. Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine , Istanbul Turkey

3. Department of Medical Genetics, Hacetepe University, Faculty of Medicine , Ankara , Turkey

4. Department of Anesthesia and Reanimation, University of Health Sciences Ümraniye Training and Research Hospital , Istanbul , Turkey

5. Perinatalogy Unit, University of Health Sciences Zeynep Kamil Women and Children Training and Research Hospital , Istanbul , Turkey

Abstract

Abstract 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.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Link

https://www.sciendo.com/pdf/10.2478/bjmg-2020-0014

Reference26 articles.

1. De Grouchy J, Lamy M, Theffry S, Arthuis M, Salmon C. Dysmorphic complex with oligophrenia: Deletion of short arms of a chromosome 17-18. Comptes Rendus de l’Académie des Sciences (Paris). 1963; 257(6): 3098-3102.

2. Goh DL, Tan AS, Chen JY, van den Berghe JA. Dysmorphic sibs trisomic for the region 6q22.11?6q23.3. J Med Genet. 2000: 37(11): 889-892.

3. Pivnick EK, Qumsiyeh MB, Tharapel AT, Summitt JB, Wilroy RS. Partial duplication of the long arm of chromosome 6: A clinically recognizable syndrome. J Med Genet. 1990; 27(8): 523-526.

4. Wester U, Bondeson M-L, Edeby C, Anneren G. Clinical and molecular characterization of individuals with 18p deletion: A genotype-phenotype correlation. Am J Med Genet A. 2006; 140A(11): 1164-1171.

5. Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, et al. A review of 18p deletions. Am J Med Genet C Semin Med Genet. 2015; 169(3): 251-264.

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Exome and Genome Sequencing to Unravel the Precise Breakpoints of Partial Trisomy 6q and Partial Monosomy 2q;2023-05-08