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Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced

Na Chen1, Wenshan Zeng1, Yuqin Luo1

  • 1Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, PR China.

Molecular Syndromology
|December 5, 2024
PubMed

Insights

Partial 17q duplication, a rare chromosomal abnormality, causes developmental delays and distinct facial features. This study details two siblings with this condition, expanding the known clinical spectrum.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Partial 17q duplication is a rare chromosomal abnormality.
  • Associated features include severe psychomotor retardation, intellectual disability, facial dysmorphism, proximal limb shortness, and joint hyperlaxity.

Purpose of the Study:

  • To report two sibling cases with 17q25 duplication.
  • To expand the clinical spectrum and describe the fetal phenotype of 17q25 microduplication.

Main Methods:

  • Case report of two siblings with 17q25 duplication.
  • Genetic analysis tracing the duplication to a maternal translocation t(14;17).

Main Results:

  • The proband presented with developmental delay, facial abnormality, joint laxity, scoliosis, ventriculomegaly, hydrocephalus, hypophosphatemia, and squint.
  • The sibling fetus exhibited multiple malformations, including ventriculomegaly and moderate hydrocephalus, leading to termination at 33 weeks gestation.

Conclusions:

  • The findings expand the clinical spectrum of partial 17q duplication.
  • This study describes the fetal phenotype associated with 17q25 microduplication.
Abstract

Keywords:
17q25 microduplicationCryptic translocationFluorescence in situ hybridizationSingle-nucleotide polymorphism arrayVentriculomegaly

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