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Omphalocele and partial trisomy 1q syndrome
Human Genetics
|January 1, 1979
Summary
This case study details a male infant with partial trisomy 1q syndrome, characterized by numerous congenital anomalies including a large omphalocele. The study highlights a rare genetic translocation in the family, linking it to recurrent pregnancy loss.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Partial trisomy 1q syndrome is a rare chromosomal abnormality.
- Genetic translocations can lead to complex congenital anomalies and reproductive issues.
Observation:
- A male infant presented with partial trisomy 1q syndrome (46,XY,der(21),t(1;21)(q25;q22)pat).
- Clinical features included intrauterine growth restriction, hypoglycemia, dysmorphic facial features, genitourinary abnormalities, and limb malformations.
- A large omphalocele, not previously reported in trisomy 1q, was noted.
- Postmortem examination revealed cerebellar hypoplasia, thymic abnormalities, cardiac defects (PDA, ASD), adrenal hypoplasia, and hepatic steatosis.
Findings:
- The infant's karyotype indicated a translocation between chromosomes 1 and 21.
- The same translocation, t(1;21)(q25;q22), was identified in the father, grandfather, and a sibling.
- A family history of recurrent spontaneous abortions suggests a link between the translocation and reproductive failure.
Implications:
- This case expands the phenotypic spectrum of partial trisomy 1q syndrome.
- The presence of a large omphalocele may be a previously unrecognized feature.
- The familial translocation highlights the importance of genetic counseling for families with recurrent pregnancy losses and chromosomal abnormalities.