Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis
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 cl...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2011-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2011/131768 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849685344376586240 |
|---|---|
| author | Omid Kohannim Jane Peredo Katrina M. Dipple Fabiola Quintero-Rivera |
| author_facet | Omid Kohannim Jane Peredo Katrina M. Dipple Fabiola Quintero-Rivera |
| author_sort | Omid Kohannim |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c38fcc153d324e8ea9b5cac77c61abcc |
| institution | DOAJ |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-c38fcc153d324e8ea9b5cac77c61abcc2025-08-20T03:23:11ZengWileyCase Reports in Genetics2090-65442090-65522011-01-01201110.1155/2011/131768131768Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray AnalysisOmid Kohannim0Jane Peredo1Katrina M. Dipple2Fabiola Quintero-Rivera3David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USADepartment of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USADepartment of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USADepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, 1000 Veteran Avenue 22-26, Los Angeles, CA 90024, USAWe 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.http://dx.doi.org/10.1155/2011/131768 |
| spellingShingle | Omid Kohannim Jane Peredo Katrina M. Dipple Fabiola Quintero-Rivera 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 |
| title | Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis |
| title_full | Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis |
| title_fullStr | Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis |
| title_full_unstemmed | Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis |
| title_short | Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis |
| title_sort | clinical findings associated with a de novo partial trisomy 10p11 22p15 3 and monosomy 7p22 3 detected by chromosomal microarray analysis |
| url | http://dx.doi.org/10.1155/2011/131768 |
| work_keys_str_mv | AT omidkohannim clinicalfindingsassociatedwithadenovopartialtrisomy10p1122p153andmonosomy7p223detectedbychromosomalmicroarrayanalysis AT janeperedo clinicalfindingsassociatedwithadenovopartialtrisomy10p1122p153andmonosomy7p223detectedbychromosomalmicroarrayanalysis AT katrinamdipple clinicalfindingsassociatedwithadenovopartialtrisomy10p1122p153andmonosomy7p223detectedbychromosomalmicroarrayanalysis AT fabiolaquinterorivera clinicalfindingsassociatedwithadenovopartialtrisomy10p1122p153andmonosomy7p223detectedbychromosomalmicroarrayanalysis |