De Novo Terminal Microdeletion of Chromosome 18 in a Boy With Few Features of Typical 18q- Deletion Syndrome. Journal of Clinical and Health Sciences, 7. p. 98. ISSN 0127-984X (2022)
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Abstract
Introduction: The phenotype of patients with 18q- syndrome can be highly variable ranging from
almost normal to severe malformations and intellectual disability. Here we report a 16-year-old boy,
a product of a non-consanguineous marriage, who presented with intellectual disability, facial
dysmorphism, high arched palate, congenital talipes equinovarus (clubfoot), congenital scoliosis,
congenital heart defect and behavioural problems
| Item Type: | Article |
|---|---|
| Keywords: | 18q- Deletion Syndrome, Microdeletion, Chromosome 18q23, Array-based Comparative Genomic Hybridization (aCGH) |
| Taxonomy: | By Niche > Genome > Human Genome By Niche > Genome > Human Genome Research |
| Local Content Hub: | Niche > Genome |
| Depositing User: | Hazrul Amir Tomyang (Puncak Alam) |
| Date Deposited: | 30 Apr 2025 09:14 |
| Last Modified: | 30 Apr 2025 09:14 |
| Related URLs: |
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