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Clinical and cytogenetic spectrum of duplication 3p
Insights
Duplication 3p syndrome, caused by a maternal translocation, presents with congenital heart defects and distinctive facial features in infants. The 3p25 to 3pter region is implicated in this developmental disorder.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Describes a case of 3p duplication syndrome in an infant.
- Highlights the genetic origin from a maternal balanced translocation (3;6).
Observation:
- Presents a detailed clinical profile of the affected child.
- Includes major findings: congenital heart defects and multiple dysmorphic features.
Findings:
- The duplication spans from 3p21 to 3pter.
- Comparison with 12 literature cases suggests a consistent pattern of developmental defects.
- Identifies the 3p25 to 3pter region as critical for the duplication 3p syndrome phenotype.
Implications:
- Contributes to understanding the genotype-phenotype correlation in 3p duplication.
- Informs genetic counseling and clinical management of affected individuals.
- Highlights the role of specific chromosomal regions in developmental disorders.
Abstract:
An eight months old child with duplication 3p (p21 leads to 3pter) [karyotype: 46,XX,-6,+t(3;6)(6pter leads to 6q27::3p21 leads to 3pter)] resulting from a maternal balanced translocation (3;6) is described. The major clinical findings include congenital heart defects (several ventricular septal defects, atrial septal defect, patent ductus arteriosus, and double outlet right ventricle), and multiple dysmorphic features, such as brachycephaly, frontal bossing, square shaped face, hypertelorism, epicanthus, short prominent philtrum, and short neck. The motor development is retarded. The size of the duplicated segment of 3p is compared to 12 cases reported in the literature. Although the size of the duplicated segment differs in most of the patients, all show a similar pattern of developmental defects. It appears that the region 3p25 leads to 3pter is responsible for the phenotype of duplication 3p syndrome.