A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Molin, Anna-Maja; Andrieux, J.; Koolen, D. A. N.; Delobel, B.; Duban-Bedu, B.; Fischetto, R.; Flinter, F.; Kjaergaard, S.; Kok, F.; Krepischii, A.C.; Le Caignec, C.; Mackie Ogilvie, C.; Maia, S.; Mathieu-Dramard, M.; Munnich, A.; Palumbo, O.; Papadia, F.; Pfundt, R.; Reardon, A.; Receveur, A.; Rio, M.; Ronsbro, Darling, L.; Rosenberg, C-; Sa, J.; Vallee, L.; Vincent-Delorme, C.; Zelante, L.; Bondeson, M-L; Anneren, G.

doi:10.1136/jmedgenet-2011-100534

Research article2012Peer reviewedOpen access

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Molin, Anna-Maja; Andrieux, J.; Koolen, D. A. N.; Delobel, B.; Duban-Bedu, B.; Fischetto, R.; Flinter, F.; Kjaergaard, S.; Kok, F.; Krepischii, A.C.; Le Caignec, C.; Mackie Ogilvie, C.; Maia, S.; Mathieu-Dramard, M.; Munnich, A.; Palumbo, O.; Papadia, F.; Pfundt, R.; Reardon, A.; Receveur, A.;
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Abstract

Conclusion A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.

Published in

Journal of Medical Genetics
2012, volume: 49, number: 2, pages: 104-109
Publisher: BMJ PUBLISHING GROUP

SLU Authors

Molin, Anna-Maja
- Uppsala University

UKÄ Subject classification

Medical Genetics and Genomics

Publication identifier

DOI: https://doi.org/10.1136/jmedgenet-2011-100534

Permanent link to this page (URI)

https://res.slu.se/id/publ/45899