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Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities
M Entezami1, A Coumbos, S Runkel
1Department of Gynecology, University Medical Center Benjamin Franklin, Free University of Berlin, Germany. Entezami@ukbf.fu-berlin.de
Clinical Genetics
|August 1, 1997
Summary
A rare genetic condition, partial trisomy 3p with partial 5p monosomy, caused severe birth defects including esophageal atresia and brain malformations. Prenatal ultrasound detected key indicators like polyhydramnios and a single umbilical artery.
Area of Science:
- Genetics
- Developmental Biology
- Medical Case Reports
Background:
- Balanced maternal translocation t(3;5) leading to unbalanced chromosomal segregation.
- Inherited chromosomal abnormalities can cause complex congenital disorders.
Observation:
- Newborn presented with esophageal atresia and intricate cerebral malformations.
- Distinct sonographic findings included polyhydramnios without stomach visualization and a single umbilical artery.
Findings:
- Confirmed partial trisomy of chromosome 3 short arm (3p) and partial monosomy of 5p.
- The chromosomal abnormality resulted from malsegregation of a maternal balanced translocation.
Implications:
- Highlights the importance of genetic counseling for balanced translocations.
- Identifies specific sonographic markers for prenatal diagnosis of similar chromosomal imbalances.
- Underscores the severe impact of complex chromosomal aberrations on fetal development and survival.