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

Gayatri Nerakh; Aditi Shah; Vyshnavi Seshan; Prajnya Ranganath

doi:10.1007/s40556-022-00343-9

Journal of Fetal Medicine, Inhaltsverzeichnis

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

¹Consultant Medical Geneticist, Department of Fetal Medicine and Medical Genetics, Fernandez Hospital, 500029, Hyderabad, Telangana, India

,

Aditi Shah

²Consultant Fetal Medicine, Department of Fetal Medicine and Medical Genetics, Fernandez Hospital, Hyderabad, Telangana, India

,

Vyshnavi Seshan

³FNB in High risk pregnancy, Department of Fetal Medicine and Medical Genetics, Fernandez Hospital, Hyderabad, Telangana, India

,

Prajnya Ranganath

⁴Additional professor and Head, Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India

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Abstract

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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

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