De Novo Interstitial Deletion of Chromosome 2 (p23p24)

Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2–2p25.1 and three cases of 2p23.3–2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative g...

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Bibliographic Details
Published in:Pediatrics and neonatology 2011-02, Vol.52 (1), p.46-50
Main Authors: Su, Pen-Hua, Chen, Jia-Yuh, Tsao, Teng-Fu, Chen, Suh-Jen
Format: Article
Language:English
Subjects:
2p deletion
Abnormalities, Multiple - genetics
array CGH
Biological and medical sciences
Bone (cortical)
Bone marrow
Child
chromosome 2
Chromosome Deletion
Chromosomes, Human, Pair 2
Computed tomography
Developmental Disabilities - genetics
Dysostosis
General aspects
Genomes
Hearing
Hearing Disorders - genetics
Humans
Internal Medicine
Limb Deformities, Congenital - genetics
Limbs
Magnetic Resonance Imaging
Male
Medical sciences
Mental retardation
Monosomy
Motor skill learning
Pediatrics
radioulnar synostosis
Radius
Tomography, X-Ray Computed
Ulna
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Summary:Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2–2p25.1 and three cases of 2p23.3–2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. The obvious osseous fusion with bone marrow and cortex continuation between proximal parts of radius and ulna—congenital radioulnar synostosis—were first visualized by multidetector-row computed tomography scan.
ISSN:1875-9572
DOI:10.1016/j.pedneo.2010.12.001