Document Detail


Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects.
MedLine Citation:
PMID:  12116237     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Andrew H Lane; Naghma Aijaz; Patricia Galvin-Parton; Joseph Lanman; Robert Mangano; Thomas A Wilson
Related Documents :
158447 - A chromosome survey of a hospital for the mentally subnormal.
24702787 - Adaptation of candida albicans to growth on sorbose via monosomy of chromosome 5 accomp...
10677307 - A unique form of mental retardation with a distinctive phenotype maps to xq26-q27.
9740427 - Advanced paternal age and de-novo complex chromosomal rearrangement in offspring.
18021237 - Genetic elements for selection, deletion mutagenesis and complementation in francisella...
8875237 - Microsatellite analysis of recurrent chromosome 2 deletions in acute myeloid leukaemia ...
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.
Affiliation:
Department of Pediatrics, State University of New York, Stony Brook, New York, USA. alane@mail.som.sunysb.edu
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Aneuploidy*
Child
Female
Growth Disorders / pathology
Heart Defects, Congenital / pathology*
Human Growth Hormone / deficiency*
Humans
Male
Microcephaly / pathology
Mosaicism
Chemical
Reg. No./Substance:
12629-01-5/Human Growth Hormone

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Paternal UPD14 is responsible for a distinctive malformation complex.
Next Document:  Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and revie...