International Journal of Infertility & Fetal Medicine

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VOLUME 13 , ISSUE 1 ( January-April, 2022 ) > List of Articles


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

Nupur Shah

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.

DOI: 10.5005/jp-journals-10016-1250

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.

  1. Bianchi DW, Crombleholme TM, D'Alton ME. Fetology: diagnosis & management of the fetal patient. New York: McGraw-Hill, Medical Pub Division. 2000.
  2. Dimitrios A, Christos T, Georgios T, et al. Embryo with XYY syndrome presenting with clubfoot: a case report. Cases J 2009:2:8404. DOI: 10.4076/1757-1626-2-8404
  3. Latrech H, Skikar I, Gharbi M, et al. Disorder of sexual development and congenital heart defect in 47XYY: clinical disorder or coincidence? Case Rep Endocrinol 2015, Article ID 802162
  4. Zhang B, Lu BY, Yu B, et al. Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood. J Int Med Res 2017;45(2):621–630. DOI: 10.1177/0300060517695008
  5. Vessel S, Rollings S, Jones A. Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome. Heart 2006;92:1501–1505. DOI: 10.1136/hrt.2005.083295
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