Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies

American Journal of Medical Genetics

Volumn 100, Issue 4, 2001, Pages 264-268

  Hirshfeld, Amy B ^a   Reid Thompson, W ^a   Patel, Ankita ^b   Boone, Lucy Barrett ^b   Murphy, Anne M ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Hypertrophic cardiomyopathy; Partial trisomy 1q; Tandem duplication; Wolff Parkinson White syndrome

Indexed keywords

MUSCLE PROTEIN; POLYSACCHARIDE; POLYSACCHARIDE ANTIGEN; UNCLASSIFIED DRUG;

ANTIBODY RESPONSE; ARTICLE; CASE REPORT; CEREBRAL PALSY; CHROMOSOME 1Q; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; FEMALE; GENETIC DISORDER; HUMAN; HYDROCEPHALUS; HYPERTROPHIC CARDIOMYOPATHY; INTESTINE MALROTATION; LOW SET EAR; MENTAL DEFICIENCY; MICROGNATHIA; MISSENSE MUTATION; MOSAICISM; NEWBORN; PRIORITY JOURNAL; SCOLIOSIS; SYNDACTYLY; TRISOMY; WOLFF PARKINSON WHITE SYNDROME;

ABNORMALITIES, MULTIPLE; CARDIOMYOPATHY, HYPERTROPHIC; CHROMOSOMES, HUMAN, PAIR 1; ELECTROCARDIOGRAPHY; FEMALE; GENE DUPLICATION; HUMANS; INFANT, NEWBORN; KARYOTYPING; MICROGNATHISM; MOSAICISM; MUTATION; TRISOMY; WOLFF-PARKINSON-WHITE SYNDROME;

EID: 0035873934     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1285     Document Type: Article

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