Literature DB >> 24311374

Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications.

Jacqueline R Batanian1, Stephen R Braddock, Katherine Christensen, Alan P Knutsen.   

Abstract

We report for the first time on a 3-year-old boy with paternally inherited 212.85 kb-16p11.2 and 7.8 Mb-20p12.2-11.23 interstitial microduplications associated with having congenital cardiac defect, dysmorphic facial features, and combined T-, B-, and NK cell immunodeficiency. In addition the 7.8 Mb-20p12.2-11.23 microduplication is unique showing novel breakpoints among all partial trisomy/duplication 20p reported to date, narrowing down the critical region for trisomy 20p syndrome.
© 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  16p11.2 duplication; 20p12.2-11.23 duplication; combined immunodeficiency; congenital heart disease; partial trisomy 20p syndrome

Mesh：

Year:  2013        PMID： 24311374     DOI： 10.1002/ajmg.a.36305

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


  3 in total

1.  Primary immunodeficiency associated with chromosomal aberration - an ESID survey.

Authors:  Ellen Schatorjé; Michiel van der Flier; Mikko Seppänen; Michael Browning; Megan Morsheimer; Stefanie Henriet; João Farela Neves; Donald Cuong Vinh; Laia Alsina; Anete Grumach; Pere Soler-Palacin; Thomas Boyce; Fatih Celmeli; Ekaterini Goudouris; Grant Hayman; Richard Herriot; Elisabeth Förster-Waldl; Markus Seidel; Annet Simons; Esther de Vries
Journal:  Orphanet J Rare Dis       Date:  2016-08-02       Impact factor: 4.123

2.  Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

Authors:  Debra D'Angelo; Sébastien Lebon; Qixuan Chen; Sandra Martin-Brevet; LeeAnne Green Snyder; Loyse Hippolyte; Ellen Hanson; Anne M Maillard; W Andrew Faucett; Aurélien Macé; Aurélie Pain; Raphael Bernier; Samuel J R A Chawner; Albert David; Joris Andrieux; Elizabeth Aylward; Genevieve Baujat; Ines Caldeira; Philippe Conus; Carrina Ferrari; Francesca Forzano; Marion Gérard; Robin P Goin-Kochel; Ellen Grant; Jill V Hunter; Bertrand Isidor; Aurélia Jacquette; Aia E Jønch; Boris Keren; Didier Lacombe; Cédric Le Caignec; Christa Lese Martin; Katrin Männik; Andres Metspalu; Cyril Mignot; Pratik Mukherjee; Michael J Owen; Marzia Passeggeri; Caroline Rooryck-Thambo; Jill A Rosenfeld; Sarah J Spence; Kyle J Steinman; Jennifer Tjernagel; Mieke Van Haelst; Yiping Shen; Bogdan Draganski; Elliott H Sherr; David H Ledbetter; Marianne B M van den Bree; Jacques S Beckmann; John E Spiro; Alexandre Reymond; Sébastien Jacquemont; Wendy K Chung
Journal:  JAMA Psychiatry       Date:  2016-01       Impact factor: 21.596

3.  Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies.

Authors:  Shahzaib Khattak; Meryam Jan; Sara Warsi; Sohail Khattak
Journal:  Case Rep Genet       Date:  2020-07-11
  3 in total

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