Fetal Jacob Syndrome (47XYY): An Uncommon Association of Fetal Pulmonary Atresia with Ventricular Septal Defect

Nupur Shah

doi:10.5005/jp-journals-10016-1250

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Fetal Jacob Syndrome (47XYY): An Uncommon Association of Fetal Pulmonary Atresia with Ventricular Septal Defect

Nupur Shah

Citation Information : Shah N. Fetal Jacob Syndrome (47XYY): An Uncommon Association of Fetal Pulmonary Atresia with Ventricular Septal Defect. Int J Infertil Fetal Med 2022; 13 (1):34-35.

DOI: 10.5005/jp-journals-10016-1250

License: CC BY-NC 4.0

Published Online: 19-01-2022

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Abstract

Jacob syndrome is a sex chromosome aneuploidy comprising of an extra Y choromosome usually diagnosed late in postnatal life or never diagnosed throughout the life. Its prenatal diagnosis is usually accidental due to lack of specific fetal phenotype. The case presented here is that of a prenatally diagnosed Jacob syndrome associated with pulmonary atresia and ventricular septal defect (PA-VSD) which is an uncommon fetal phenotype, not reported in the literature so far.

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