SHORT-LIMB DWARFISM AND HYPERTROPHIC CARDIOMYOPATHY IN A PATIENT WITHPATERNAL ISODISOMY-14 - 45,XY,IDIC(14)(P11)

Uniparental disomy (UPD) has been shown to result in specific disorder s either due to imprinting and/or homozygosity of mutant alleles, Here we present the findings in a child with paternal UPD14. Ultrasound ev aluation was performed at 30 weeks of gestation because of abnormally large uterine size, Pertinent ultrasound findings included polyhydramn ios, short limbs, abnormal position of hands, small thorax, and non-vi sualization of the fetal stomach, Postnatally 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 ga strostomy were required, At age 6 months, the infant required hospital ization for hypertrophic cardiomyopathy which responded to Atenolol(R) . Initial cytogenetic studies demonstrated an apparently balanced de n ovo Robertsonian translocation involving chromosomes 14 and a karyotyp e designation of 45,XY,t(14q14q). No indication of mosaicism for triso my 14 was observed in metaphase spreads prepared from peripheral blood lymphocytes or skin-derived fibroblasts. C-band and fluorescence in s itu hybridization results demonstrated that the chromosome was dicentr ic, DNA analyses showed paternal uniparental isodisomy for chromosome 14, Based on the cytogenetic and DNA results a final karyotype designa tion of 45,XY,idic(14)(p11) was assigned to this infant with paternal isodisomy of chromosome 14. (C) 1996 Wiley-Liss, Inc.