Literature DB >> 19272308

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).

Irina Balikova1, Joris Robert Vermeesch, Jean-Pierre Fryns, Hilde Van Esch.   

Abstract

We describe a female patient with der(2) t(2;10)(q37;q26). She presented with congenital malformations typical of a terminal 2q deletion, associated with immune deficiency leading to bronchiectasis.

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Year:  2009        PMID： 19272308     DOI： 10.1016/j.ejmg.2009.01.001

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


  2 in total

1.  The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Authors:  Camille Leroy; Emilie Landais; Sylvain Briault; Albert David; Olivier Tassy; Nicolas Gruchy; Bruno Delobel; Marie-José Grégoire; Bruno Leheup; Laurence Taine; Didier Lacombe; Marie-Ange Delrue; Annick Toutain; Agathe Paubel; Francine Mugneret; Christel Thauvin-Robinet; Stéphanie Arpin; Cedric Le Caignec; Philippe Jonveaux; Mylène Beri; Nathalie Leporrier; Jacques Motte; Caroline Fiquet; Olivier Brichet; Monique Mozelle-Nivoix; Pascal Sabouraud; Nathalie Golovkine; Nathalie Bednarek; Dominique Gaillard; Martine Doco-Fenzy
Journal:  Eur J Hum Genet       Date:  2012-10-17       Impact factor: 4.246

2.  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 in total

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