Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.

ABSTRACT:

Background

Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity.

Case characteristics

A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique.

Results

Chromosomal analysis for the couple was performed. A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father.

Discussion

Investigations of the parents is mandatory when a structural rearrangement is detected in a dysmorphic child.

SUBMITTER: Sheth F 

PROVIDER: S-EPMC4510909 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature