Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 4, Pages 1056-1061Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36394
Keywords
microdeletion 20q; failure to thrive; feeding difficulties; skeletal abnormalities
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Funding
- KOLUMB fellowship from the Foundation for Polish Science
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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 5.7Mb. 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. (c) 2014 Wiley Periodicals, Inc.
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