Title: The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities
Authors: Posmyk, Renata ×
Leśniewicz, Ryszard
Gogiel, Magdalena
Chorąży, Monika
Bakunowicz-Łazarczyk, Alina
Sielicka, Danuta
Vermeesch, Joris
Nowakowska, Beata Anna #
Issue Date: Apr-2014
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:164 issue:4 pages:1056-1061
Article number: 10.1002/ajmg.a.36394
Abstract: We report on a de novo interstitial deletion of 20q11.21-q11.23 in a 2-year-old girl with a set of dysmorphic features, cleft palate, heart defect, severe feeding problems, failure to thrive, developmental delay, preaxial polydactyly (right thumb), and retinal dysplasia. Interstitial microdeletions of the long arm of chromosome 20 are rare. Exclusively rare are proximal microdeletions involving 20q11-q12 region. Our patient is the fourth described so far and has the smallest deleted region 20q11.21-q11.23 of 5.7 Mb. The defined clinical phenotype of our patient is very similar to previously published cases and confirms the existence of retinal dysplasia and skeletal abnormalities as a part of phenotypic spectrum for deletion 20q11-q12. Description of four similar patients, including two almost identical, suggests a new distinct, phenotypicaly recognizable microdeletion syndrome associated with the loss of 20q11-q12 region. © 2014 Wiley Periodicals, Inc.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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