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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2022; 09(02): 49-52
DOI: 10.1007/s40556-022-00343-9
Case Reports

Phenotypic Overlap of 22q11.2 Microduplication and Noonan Syndrome in a Fetus with Increased NT, Facial Dysmorphism, and Narrow Pulmonary Trunk

Gayatri Nerakh
1   Consultant Medical Geneticist, Department of Fetal Medicine and Medical Genetics, Fernandez Hospital, 500029, Hyderabad, Telangana, India
,
Aditi Shah
2   Consultant Fetal Medicine, Department of Fetal Medicine and Medical Genetics, Fernandez Hospital, Hyderabad, Telangana, India
,
Vyshnavi Seshan
3   FNB in High risk pregnancy, Department of Fetal Medicine and Medical Genetics, Fernandez Hospital, Hyderabad, Telangana, India
,
Prajnya Ranganath
4   Additional professor and Head, Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India
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Abstract

22q11.2 deletion syndrome is a common microdeletion syndrome with a prevalence of 1 in 2000-6000 live births. Clinical features include conotruncal congenital heart defect (CHD), characteristic facial features, neurodevelopmental delay, and immunological abnormalities. Microduplications of 22q11.2 are rare compared to deletions due to ill-defined variable phenotype. A few cases of 22q duplication have been identified in the prenatal period in fetuses with increased nuchal translucency (NT), cardiac anomalies, cleft palate and micrognathia. We report a case of a fetus with increased NT in ultrasound and facial dysmorphism, narrow pulmonary trunk on autopsy evaluation, diagnosed to have microduplication of 22q11.2.

Keywords

22q11.2 - 22q11.2 duplication syndrome - Nuchal translucency - Cardiac anomalies


Publication History

Received: 03 April 2022

Accepted: 14 June 2022

Article published online:
04 May 2023

© 2022. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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