Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis
Joint Authors
Peredo, Jane
Dipple, Katrina M.
Quintero-Rivera, Fabiola
Kohannim, Omid
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-12-08
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Kohannim, Omid& Peredo, Jane& Dipple, Katrina M.& Quintero-Rivera, Fabiola. 2011. Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis. Case Reports in Genetics،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-448195
Modern Language Association (MLA)
Kohannim, Omid…[et al.]. Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis. Case Reports in Genetics No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-448195
American Medical Association (AMA)
Kohannim, Omid& Peredo, Jane& Dipple, Katrina M.& Quintero-Rivera, Fabiola. Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis. Case Reports in Genetics. 2011. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-448195
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-448195