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

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 nonvisualization 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 gastrostomy were required. At age 6 months, the infant required hospitalization for hypertrophic cardiomyopathy which responded to Atenolol{reg_sign}. 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. 41 refs., 5 figs.,more » 2 tabs.« less

Authors:
; ;  [1]
  1. Univ. of Texas Health Science Center, San Antonio, TX (United States); and others
Publication Date:
OSTI Identifier:
508239
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 65; Journal Issue: 4; Other Information: PBD: 11 Nov 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; PHENOTYPE; CARDIOVASCULAR DISEASES; SKELETAL DISEASES; KARYOTYPE; HUMAN CHROMOSOME 14; GENETIC MAPPING; MOSAICISM; GENES; GENE MUTATIONS; GENETICS; FLUORESCENCE; BANDING TECHNIQUES; IN-SITU HYBRIDIZATION; DICENTRIC CHROMOSOMES; BIOLOGICAL MARKERS

Citation Formats

Walter, C A, Moore, C M, and Kaye, C I. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XYidic(14)(p11). United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19961111)65:4<259::AID-AJMG2>3.0.CO;2-K.
Walter, C A, Moore, C M, & Kaye, C I. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XYidic(14)(p11). United States. https://doi.org/10.1002/(SICI)1096-8628(19961111)65:4<259::AID-AJMG2>3.0.CO;2-K
Walter, C A, Moore, C M, and Kaye, C I. 1996. "Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XYidic(14)(p11)". United States. https://doi.org/10.1002/(SICI)1096-8628(19961111)65:4<259::AID-AJMG2>3.0.CO;2-K.
@article{osti_508239,
title = {Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XYidic(14)(p11)},
author = {Walter, C A and Moore, C M and Kaye, C I},
abstractNote = {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 nonvisualization 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 gastrostomy were required. At age 6 months, the infant required hospitalization for hypertrophic cardiomyopathy which responded to Atenolol{reg_sign}. 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. 41 refs., 5 figs., 2 tabs.},
doi = {10.1002/(SICI)1096-8628(19961111)65:4<259::AID-AJMG2>3.0.CO;2-K},
url = {https://www.osti.gov/biblio/508239}, journal = {American Journal of Medical Genetics},
number = 4,
volume = 65,
place = {United States},
year = {Mon Nov 11 00:00:00 EST 1996},
month = {Mon Nov 11 00:00:00 EST 1996}
}