Phenotypic and genotypic insights into concurrent tertiary trisomy for 9p and 18p.

ABSTRACT:

Background

Carriers of balanced reciprocal translocation are usually phenotypically normal; however, they have an increased risk of producing gametes with chromosomal imbalance through different types of meiotic segregation of the translocation quadrivalent. The genetically imbalanced gametes when they survive can result in embryos with chromosomal abnormalities. Here we report a family with two siblings inheriting partial trisomy for 9p and 18p concurrently resulting from a 3:1 meiotic segregation of a maternal balanced translocation involving chromosome 9q and 18p, and the associated phenotype.

The family - case presentation

The family was ascertained because of severe congenital anomalies in a newborn male (sibling 1). The karyotype of this patient was 47,XY,+del(9)(q13q3

SUBMITTER: Wright CA 

PROVIDER: S-EPMC11808968 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature