Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

Abstract Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative...

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Bibliographic Details
Published in:European journal of medical genetics 2011-01, Vol.54 (1), p.67-72
Main Authors: Wohlleber, Eva, Kirchhoff, Maria, Zink, Alexander M, Kreiß-Nachtsheim, Martina, Küchler, Alma, Jepsen, Birgit, Kjaergaard, Susanne, Engels, Hartmut
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Child
Chromosome Deletion
Chromosomes, Human, Pair 12 - genetics
Comparative Genomic Hybridization
Databases, Genetic
Developmental delay
Female
Gene Dosage
Humans
Intellectual Disability - pathology
Karyotyping
Male
Medical Education
Mental retardation
Microdeletion 2p14-p15
Molecular karyotyping
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Summary:Abstract Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative microcephaly. In patient 1, molecular karyotyping detected a 2.23-Mb deletion in chromosome 2p14-p15 including 11 known genes. The second patient, with a 2.84-Mb microdeletion containing 15 genes, was identified in the DECIPHER database. The two deleted regions overlap by a stretch of 1.6 Mb that contains 10 genes, several of which have functions in neuronal development. This report illustrates the power of databases such as DECIPHER and MRNET in assessing the pathogenicity of copy-number variations (CNVs).
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2010.09.012