Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5905058 | European Journal of Medical Genetics | 2011 | 4 Pages |
Abstract
We report on a 9-month old boy carrying a 21Â Mb de novo 13q interstitial deletion. The imbalance was detected by chromosomal analysis and investigated by Fluorescence In Situ Hybridization (FISH) and Comparative Genomic Hybridization (array-CGH) using two different platforms: a BAC microarray with 516Â kb resolution (Cytochip) and a 15Â kb resolution oligonucleotide microarray (Agilent 244K). The deletion has been estimated to span 21.46Â Mb on chromosomal bands 13q22.2-13q32.1. The patient has mild/moderate psychomotor retardation, growth hormone insufficiency, hypertelorism, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features. Further investigation revealed that the abnormality is de novo and causative of the patient's phenotype. The described patient is unique among similar rare cases with different deletion breakpoints. It is the first case of 13q22.2q32.1 deletion where the breakpoints are clearly defined, indicating the importance of detailed clinical description and high-resolution genomic analysis for characterization of rare genetic syndromes.
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Authors
Panagiota Grigori, Elena Panayiotou, Carolina Sismani, George Koumbaris, Marios Ioannides, Christos Costalos, Zoe Kosmaidou-Aravidou, Ludmila Kousoulidou, Philippos C. Patsalis,