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Familial trisomy 11p resulting from a balanced paternal translocation: 3 new cases including first trimester
1Center of Medical Genetics, Université Libre de Bruxelles.
Insights
Three new cases of trisomy 11p, a chromosome imbalance, were identified due to paternal translocation. This condition is linked to potential birth defects like exomphalos and may relate to Beckwith-Wiedemann Syndrome.
Area of Science:
- Genetics
- Human Chromosome Abnormalities
- Prenatal Diagnosis
Background:
- Paternal balanced translocation t(7;11)(q36.1;p11.1) can lead to partial trisomy 11p.
- Trisomy 11p is a rare chromosomal abnormality with variable clinical manifestations.
Observation:
- Three related cases with almost complete trisomy 11p are presented.
- Case 1: A stillborn with exomphalos.
- Cases 2 and 3: Prenatal diagnosis of trisomy 11p in fetuses, one with omphalocele.
Findings:
- Confirmed trisomy 11p in all three cases.
- Detailed cytogenetic analysis revealed paternal origin of the translocation.
- Clinical features included malformations such as exomphalos and omphalocele.
Implications:
- Highlights the importance of cytogenetic analysis in cases of fetal malformations.
- Suggests a potential association between trisomy 11p and Beckwith-Wiedemann Syndrome.
- Contributes to understanding the phenotypic spectrum of trisomy 11p.
Abstract:
Three related new cases with almost complete trisomy 11p due to paternal balanced translocation 46, XY, t(7; 11) (q36.1; p11.1) are reported. The proband (Case 1) was a malformed stillborn with exomphalos, case 2 was diagnosed in the first trimester by direct chromosome preparations from chorionic villi, and confirmed on fetal products after termination of pregnancy. Case 3, a cousin to cases 1 and 2, was a 29-weeks-old fetus with omphalocele discovered at ultrasound. Literature reports of trisomy 11p are reviewed with regard to those new cases, and the possible relationship of this chromosome imbalance with the Beckwith-Wiedemann Syndrome is discussed.