Clinical Comparison of Overlapping Deletions of 19p13.3
| Autor: | Jim Tepperberg, LaDonna Immken, David J. Amor, Stuart Schwartz, Virginia K. Proud, Peter Papenhausen, Joris Andrieux, Romela Pasion, Ghislaine Plessis, Tiong Yang Tan, Hiba Risheg, Elisabeth A. Keitges, Stephanie Sacharow |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Heart malformation Developmental Disabilities MAP2K2 Biology Polymorphism Single Nucleotide Young Adult Intellectual Disability Genetics medicine Humans Abnormalities Multiple Copy-number variation Child In Situ Hybridization Fluorescence Genetics (clinical) Sequence Deletion Microarray analysis techniques Macrocephaly Microarray Analysis Phenotype Child Preschool Female medicine.symptom Haploinsufficiency Chromosomes Human Pair 19 SNP array |
| Zdroj: | American Journal of Medical Genetics Part A. 161:1110-1116 |
| ISSN: | 1552-4825 |
| Popis: | We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart abnormalities, large head relative to height and weight or macrocephaly, and minor facial anomalies. Deletion sizes ranged from 792 Kb to 1.0 Mb and included a common region arr [hg19] 19p13.3 (3,814,392–4,136,989), containing eight genes: ZFR2, ATCAY, NMRK2, DAPK3, EEF2, PIAS4, ZBTB7A, MAP2K2, and two non-coding RNA's MIR637 and SNORDU37. The patient phenotypes were compared with three previous single patient reports with similar interstitial 19p13.3 deletions and six additional patients from the DECIPHER and ISCA databases to determine if a common haploinsufficient phenotype for the region can be established. © 2013 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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