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Author Notes:

Jennifer G. Mulle, M.H.S., Ph.D., Department of Epidemiology, Rollins School of Public Health, Emory University, Mailstop 1518‐022‐3BB, CNR 4053, 1518 Clifton Road, Atlanta, GA 30322. E‐mail: jmulle@emory.edu

The authors would like to thank K. Shaw, A. Bernstein, and Dr. M. Gambello for valuable comments on the manuscript. The authors gratefully acknowledge the participation of the 3q29 registry participants and their families, and the support of Unique Rare Chromosome Disorder support Group http://www.rarechromo.org/


Research Funding:

The work was supported by NIH grants MH100917 (JGM) and GM097331 (JGM), and the Emory University Treasure Your Exceptions Fund (MEZ).


  • Science & Technology
  • Life Sciences & Biomedicine
  • Genetics & Heredity
  • 3q29 deletion
  • 3q29 microdeletion
  • autism spectrum disorder
  • schizophrenia
  • copy number variation
  • developmental delay
  • genomic disorders
  • patient-reported outcomes
  • RISK

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

Journal Title:

American Journal of Medical Genetics Part A


Volume 170, Number 4


, Pages 999-1006

Type of Work:

Article | Final Publisher PDF


3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. To characterize the range of phenotypic manifestations associated with 3q29 deletion syndrome, we have developed an online registry (3q29deletion.org) for ascertainment of study subjects and phenotypic data collection via Internet-based survey instruments. We report here on data collected during the first 18 months of registry operation, from 44 patients. This is the largest cohort of 3q29 deletion carriers ever assembled and surveyed in a systematic way. Our data reveal that 28% of registry participants report neuropsychiatric phenotypes, including anxiety disorder, panic attacks, depression, bipolar disorder, and schizophrenia. Other novel findings include a high prevalence (64%) of feeding problems in infancy and reduced weight at birth for 3q29 deletion carriers (average reduction 13.9 oz (394g), adjusted for gestational age and sex, P=6.5e-07). We further report on the frequency of heart defects, autism, recurrent ear infections, gastrointestinal phenotypes, and dental phenotypes, among others. We also report on the expected timing of delayed developmental milestones. This is the most comprehensive description of the 3q29 deletion phenotype to date. These results are clinically actionable toward improving patient care for 3q29 deletion carriers, and can guide the expectations of physicians and parents. These data also demonstrate the value of patient-reported outcomes to reveal the full phenotypic spectrum of rare genomic disorders.

Copyright information:

© 2016 Wiley Periodicals, Inc.

This is an Open Access work distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/).

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