Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)

Christi A. Walter, Lisa G. Shaffer, Celia I. Kaye, Robert W. Huff, Patricia D. Ghidoni, Christopher McCaskill, Melinda B. McFarland, Charleen M. Moore

Research output: Contribution to journalArticlepeer-review

53 Scopus citations

Abstract

Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant alleles. Here we present the findings in a child with paternal UPD14. Ultrasound evaluation was performed at 30 weeks of gestation because of abnormally large uterine size. Pertinent ultrasound findings included polyhydramnios, short limbs, abnormal position of hands, small thorax, and non-visualization of the fetal stomach. Post-natally the infant was found to have a low birth weight, short birth length, contractures, short limbs, and a small thorax with upslanting ribs. Assisted ventilation and gastrostomy were required. At age 6 months, the infant required hospitalization for hypertrophic cardiomyopathy which responded to Atenolol®. Initial cytogenetic studies demonstrated an apparently balanced de novo Robertsonian translocation involving chromosomes 14 and a karyotype designation of 45,XY,t(14q14q). No indication of mosaicism for trisomy 14 was observed in metaphase spreads prepared from peripheral blood lymphocytes or skin-derived fibroblasts. C-band and fluorescence in situ hybridization results demonstrated that the chromosome was dicentric. DNA analyses showed paternal uniparental isodisomy for chromosome 14. Based on the cytogenetic and DNA results a final karyotype designation of 45,XY,idic(14)(p11) was assigned to this infant with paternal isodisomy of chromosome 14.

Original languageEnglish (US)
Pages (from-to)259-265
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume65
Issue number4
DOIs
StatePublished - Nov 11 1996

Keywords

  • isochromosome 14
  • short-limb dwarfism
  • uniparental disomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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