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

American Journal of Medical Genetics

Volumn 65, Issue 4, 1996, Pages 259-265

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

^a University of Texas Health Science Center at San Antonio ^*  (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

isochromosome 14; short limb dwarfism; uniparental disomy

Indexed keywords

ATENOLOL; DNA; DNA MARKER;

ARTICLE; CASE REPORT; CHROMOSOME 14; CHROMOSOME C BAND; CHROMOSOME TRANSLOCATION 14; CONTROLLED STUDY; DISOMY; DNA DETERMINATION; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HYDRAMNIOS; HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY; INFANT; KARYOTYPE; MALE; PRIORITY JOURNAL; SHORT LIMBED DWARFISM;

CARDIOMYOPATHY, HYPERTROPHIC; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DWARFISM; FEMALE; FOLLOW-UP STUDIES; HOMOZYGOTE; HUMANS; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

ROBERTSONIA;

EID: 0029835877     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961111)65:4<259::AID-AJMG2>3.0.CO;2-K     Document Type: Article

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