Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies.
We report an African American female who is mosaic for partial trisomy of 1q due to a direct duplication of 1q12 to 1q25. The child has hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome. The physical features include micrognathia, cleft palate, low set ears, posteriorly placed thumbs, and syndactyly of the second and third toes of both feet. Other abnormalities include intestinal malrotation, scoliosis, mental retardation, cerebral palsy, and hydrocephalus. There was also a selective deficiency of antibody responses to polysaccharide antigens. Proximal duplication of chromosome 1q is rare and has not been previously associated with hypertrophic cardiomyopathy. Most known gene disorders related to hypertrophic cardiomyopathy are autosomal dominant missense mutations in sarcomeric protein genes; however, none of the sarcomeric genes previously linked to hypertrophic cardiomyopathy are in this region. This finding thus highlights the possibility of additional genetic mechanisms for hypertrophic cardiomyopathy.
Hirshfeld
A B
AB
Department of Pediatrics, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Thompson
W R
WR
Patel
A
A
Boone
L B
LB
Murphy
A M
AM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D004562:Electrocardiography; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping / Q000379:methods; D008844:Micrognathism; D009030:Mosaicism; D009154:Mutation; D014314:Trisomy / Q000175:diagnosis; D014927:Wolff-Parkinson-White Syndrome / Q000235:genetics*