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Clinical variability of partial duplication 1q: a clinical report and literature review
J Rosenthal1, D Abeliovich, R Carmi
1Pediatric Division, Soroka University Hospital, Beer-Sheva, Israel.
Insights
A rare genetic condition, partial duplication of chromosome 1q, resulted in multiple congenital malformations in a female infant. This case highlights significant phenotype variability associated with this large chromosomal duplication.
Area of Science:
- Human Genetics
- Clinical Genetics
- Medical Malformations
Background:
- Reciprocal translocations can lead to unbalanced chromosomal rearrangements in offspring.
- Parental carrier status for t(1;18)(q25;p11) was previously identified.
- Chromosomal abnormalities are a significant cause of congenital malformations.
Abstract:
A female baby with multiple congenital malformations was born to a father previously known as a carrier of reciprocal translocation, t(1;18)(q25;p11). Her chromosome constitution was 46,XX,-18,der18,t(1;18)(q25;p11)pat, namely, partial duplication 1q25----qter. The main manifestations were: macrocephaly, hirsutism, camptodactyly, eye defects, lymphedema, and duodenal atresia. This patient illustrates the phenotype variability expected from such a large duplication of chromosome 1.