Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation

Cytogenet Genome Res. 2019;158(4):192-198. doi: 10.1159/000501753. Epub 2019 Aug 9.

Abstract

Prader-Willi syndrome (PWS) and recurrent 15q13.3 microdeletion syndrome can be caused by genomic rearrangements in the complex 15q11q13 chromosomal region. Here, we describe the first female child with PWS and 15q13.3 microdeletion syndrome resulting from an unusual 10.7-Mb deletion from 15pter to 15q13.3 due to an unbalanced de novo 15;19 translocation. The patient presents with hypotonia, microcephaly, developmental delay with lack of speech, intellectual disability, happy demeanor, clinodactyly of the 4th and 5th fingers, and dysmorphic facial features discordant for PWS and consistent with an atypical phenotype.

Keywords: 15;19 translocation; 15q deletion; 15q13.3 microdeletion syndrome; Prader-Willi syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Disorders / complications*
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 15 / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / complications*
  • Intellectual Disability / genetics*
  • Prader-Willi Syndrome / complications*
  • Prader-Willi Syndrome / genetics*
  • Seizures / complications*
  • Seizures / genetics*
  • Translocation, Genetic / genetics*

Supplementary concepts

  • Chromosome 15q13.3 Microdeletion Syndrome