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Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis.

Authors :
Kohannim O
Peredo J
Dipple KM
Quintero-Rivera F
Source :
Case reports in genetics [Case Rep Genet] 2011; Vol. 2011, pp. 131768. Date of Electronic Publication: 2011 Dec 08.
Publication Year :
2011

Abstract

We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and monosomy 7p22.3. We describe the patient's clinical presentation, along with his cytogenetic analysis, and we compare the findings to those of similar case reports in the literature. We also perform a bioinformatic analysis in the chromosomal regions of segmental aneuploidy to find genes that could potentially explain the patient's phenotype.

Details

Language :
English
ISSN :
2090-6552
Volume :
2011
Database :
MEDLINE
Journal :
Case reports in genetics
Publication Type :
Report
Accession number :
23074670
Full Text :
https://doi.org/10.1155/2011/131768