14q32.3-qter trisomic segment: a case report and literature review.

ABSTRACT:

Background

Segmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental monosomy of other chromosomes.

Case presentation

We report the clinical and genetic characterization of a 4-year-old male patient with 14q32.3-qter trisomy resulting from an adjacent segregation of a paternal reciprocal translocation (14;21)(q32.1;p12). The child shows minor facial anomalies, severe developmental delay, growth retardation, and a history of congenital hypothyroidism and neonatal transitory hyperglycemic crises.

Conclusions

To the best of our knowledge, only 15 other cases of segmental 14q trisomy were documented. We compared molecularly

SUBMITTER: Villa N 

PROVIDER: S-EPMC4974715 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature