An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root

Autosomal ring chromosomes are rare abnormalities that are inherently unstable. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies. Cardiac lesions are rarely reported with this chromosome abnormality. We report on a 11-year-old boy with mosaic rin...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 98; no. 2; p. 182
Main Authors Ivanovich, J L, Watson, M S, Whelan, A J
Format Journal Article
LanguageEnglish
Published United States 15.01.2001
Subjects
Adult
Aortic Diseases - genetics
Aortic Diseases - pathology
Child
Chromosome Aberrations - genetics
Chromosome Disorders
Chromosomes, Human, Pair 6 - genetics
Cytogenetic Analysis
Dilatation, Pathologic
Female
Humans
Mosaicism - genetics
Phenotype
Ring Chromosomes
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Summary:Autosomal ring chromosomes are rare abnormalities that are inherently unstable. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies. Cardiac lesions are rarely reported with this chromosome abnormality. We report on a 11-year-old boy with mosaic ring chromosome 6 and a dilated aortic root.
ISSN:0148-7299
1096-8628
DOI:10.1002/1096-8628(20010115)98:2<182::AID-AJMG1028>3.0.CO;2-Y