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Twenty‐five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status

Twenty‐five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and... Limited literature exists on children and adults diagnosed with the mosaic form of trisomy 9. Data from the Tracking Rare Incidence Syndromes (TRIS) project has provided physical characteristics and medical conditions for 14 individuals. This article provides TRIS Survey results of 25 additional cases at two data points (birth and survey completion) as well as developmental status. Results confirmed a number of phenotypic features and medical conditions. In addition, a number of cardiac anomalies were reported along with feeding and respiratory difficulties in the immediate postnatal period. In addition, developmental status data indicated a range in functioning level up to skills in the 36 and 48‐month range. Strengths were also noted across the sample in language and communication, fine motor and social‐emotional development. Implications for professionals caring for children with this genetic condition are offered. © 2015 Wiley Periodicals, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Twenty‐five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status

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References (39)

Publisher
Wiley
Copyright
© 2015 Wiley Periodicals, Inc.
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.a.36977
pmid
25755087
Publisher site
See Article on Publisher Site

Abstract

Limited literature exists on children and adults diagnosed with the mosaic form of trisomy 9. Data from the Tracking Rare Incidence Syndromes (TRIS) project has provided physical characteristics and medical conditions for 14 individuals. This article provides TRIS Survey results of 25 additional cases at two data points (birth and survey completion) as well as developmental status. Results confirmed a number of phenotypic features and medical conditions. In addition, a number of cardiac anomalies were reported along with feeding and respiratory difficulties in the immediate postnatal period. In addition, developmental status data indicated a range in functioning level up to skills in the 36 and 48‐month range. Strengths were also noted across the sample in language and communication, fine motor and social‐emotional development. Implications for professionals caring for children with this genetic condition are offered. © 2015 Wiley Periodicals, Inc.

Journal

American Journal of Medical Genetics Part AWiley

Published: May 1, 2015

Keywords: ; ; ; ;

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