A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.

ABSTRACT:

Background

Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations.

Case presentation

The proband was born pre-term to a 34-year-old mother with a history of two first trimester miscarriages and an early infant death. She was refe

SUBMITTER: Paththinige CS 

PROVIDER: S-EPMC5941489 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature