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VOLUME 13 , ISSUE 1 ( January-April, 2022 ) > List of Articles
Keywords : 47XYY, Fetal ultrasound, Genetic counseling, Jacob syndrome, PA-VSD, Prenatal diagnosis, Pulmonary atresia with VSD, Sex chromosomal aneuploidy
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.
License: CC BY-NC 4.0
Published Online: 19-01-2022
Copyright Statement: Copyright © 2022; The Author(s).
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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