Literature DB >> 25755087

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

Deborah A Bruns1, Emily Campbell.   

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.

Entities:  

Keywords:  developmental status; long-term survivors; medical conditions; phenotypic characteristics; trisomy 9 mosaicism

Mesh:

Year:  2015        PMID: 25755087     DOI: 10.1002/ajmg.a.36977

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

1.  Cardiac Failure in a Trisomy 9 Patient Undergoing Anesthesia: A Case Report.

Authors:  Cara J Riley; Timothy Moore; Lauren Eagelston; Dale Burkett; Scott Auerbach; Richard J Ing
Journal:  Anesth Prog       Date:  2017

Review 2.  Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.

Authors:  Mindy Li; Jennifer Glass; Xiaoli Du; Holly Dubbs; Margaret Horton Harr; Marni Falk; Teresa Smolarek; Robert J Hopkin; Elaine Zackai; Sarah E Sheppard
Journal:  Am J Med Genet A       Date:  2021-05-10       Impact factor: 2.578

3.  Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9.

Authors:  Sarah M Beaudry; Oleg Shchelochkov; Pamela Trapane; Benjamin Darbro; Jaime M W Nagy
Journal:  Clin Case Rep       Date:  2021-03-09

4.  Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

Authors:  Annmarie Hempel; Alistair T Pagnamenta; Moira Blyth; Sahar Mansour; Vivienne McConnell; Ikuyo Kou; Shiro Ikegawa; Yoshinori Tsurusaki; Naomichi Matsumoto; Adriana Lo-Castro; Ghislaine Plessis; Beate Albrecht; Agatino Battaglia; Jenny C Taylor; Malcolm F Howard; David Keays; Aman Singh Sohal; Susanne J Kühl; Usha Kini; Alisdair McNeill
Journal:  J Med Genet       Date:  2015-11-05       Impact factor: 6.318

  4 in total

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