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Monozygotic twins with 17q21.31 microdeletion syndrome
Marketa Vlckova1, Miroslava Hancarova1, Jana Drabova1
1Department of Biology and Medical Genetics,Charles University 2nd Faculty of Medicine and University Hospital Motol,Prague,Czech Republic.
Chromosome 17q21.31 microdeletion syndrome, a genomic disorder, presents with intellectual disability and distinct facial features. This case study details monozygotic twins exhibiting typical symptoms, with deletions confirmed in the patients but not their parents.
Area of Science:
- Genetics
- Genomic Disorders
- Human Genetics
Background:
- Chromosome 17q21.31 microdeletion syndrome is a recurrent genomic disorder.
- The deletion occurs in a region with a common inversion (H2 haplotype) prevalent in Europeans, increasing susceptibility to recombination and deletion.
- This syndrome is clinically defined by intellectual disability, hypotonia, characteristic facial dysmorphism, and friendly behavior.
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