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Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic

Pen-Hua Su1, Inn-Chi Lee, Shun-Fa Yang

  • 1Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.

American Journal of Medical Genetics. Part A
|March 13, 2012
PubMed

Insights

A rare genetic condition, partial trisomy 6p22, is detailed in a newborn girl. This case uniquely presents with persistent hyperplastic primary vitreous (PHPV) and retinal detachment, expanding syndrome understanding.

Area of Science:

  • Genetics
  • Ophthalmology
  • Developmental Biology

Background:

  • Partial trisomy 6p22 syndrome is a rare chromosomal disorder.
  • Characterized by a range of congenital anomalies.
  • The specific genetic mechanisms and phenotypic variability require further elucidation.

Observation:

  • A newborn female presented with facial anomalies, congenital heart defect, growth retardation, feeding issues, and persistent hyperplastic primary vitreous (PHPV).
  • Cytogenetic analysis revealed a de novo translocation, der(1)t(1;6)(p36.3; p22), resulting in partial trisomy 6p22.
  • The patient exhibited PHPV with retinal detachment, a previously unreported manifestation for this syndrome.

Findings:

  • High-resolution GTG banding, SKY, and CGH confirmed a de novo translocation involving chromosome 1 and 6.
  • The patient's karyotype was 46,XX, der(1)t(1;6)(p36.3; p22).
  • Nine candidate genes (FOXQ1, FOXF2, FOXC1, NRN1, EDN1, ATXN1, DEK, E2F3, NRNS1) in the 6p22→6pter region were identified for their potential role in the observed phenotype.

Implications:

  • This case expands the known phenotypic spectrum of partial trisomy 6p22 syndrome.
  • Highlights the potential role of genes in the 6p22→6pter region in ocular development and congenital anomalies.
  • Suggests further investigation into the genetic basis of PHPV and retinal detachment in chromosomal disorders.

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