Document Detail

Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects.
MedLine Citation:
PMID:  12116237     Owner:  NLM     Status:  MEDLINE    
We describe a 12-year-old boy with mosaic variegated aneuploidy (MVA), subnormal response to growth hormone (GH) stimulation testing, and short stature. In addition to features more commonly described in MVA such as microcephaly, cognitive deficits, and certain facial features, he also has features not commonly reported in MVA, including short limb segments, epidermoid cysts, ventricular septal defect, and subaortic stenosis. Chromosomal analysis revealed hyperdiploid chromosome numbers ranging from 47 to 70; modal number 50, in 24% of the metaphases. This case demonstrates that although the phenotype of MVA almost always includes growth failure, microcephaly, and mental retardation, additional features may vary greatly across individuals. His clinical features and course suggest that in addition to GH deficiency, he may have an intrinsic inability of the growth plate to respond to growth hormone.
Andrew H Lane; Naghma Aijaz; Patricia Galvin-Parton; Joseph Lanman; Robert Mangano; Thomas A Wilson
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  110     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-07-12     Completed Date:  2002-10-08     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  273-7     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Department of Pediatrics, State University of New York, Stony Brook, New York, USA.
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MeSH Terms
Abnormalities, Multiple / genetics*,  pathology
Growth Disorders / pathology
Heart Defects, Congenital / pathology*
Human Growth Hormone / deficiency*
Microcephaly / pathology
Reg. No./Substance:
12629-01-5/Human Growth Hormone

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