Document Detail

Tetrasomy 9p confirmed by GALT.
MedLine Citation:
PMID:  6644773     Owner:  NLM     Status:  MEDLINE    
We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing the clinical features of our case with those of previously reported patients, tetrasomy 9p appears to be a distinctive and clinically recognisable malformation syndrome.
P Balestrazzi; G Croci; C Frassi; F Franchi; G Giovannelli
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  20     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1983 Oct 
Date Detail:
Created Date:  1984-01-07     Completed Date:  1984-01-07     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  396-9     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / genetics*
Bone and Bones / abnormalities
Chromosome Aberrations*
Chromosomes, Human, 6-12 and X*
Face / abnormalities
Heart Defects, Congenital / genetics
Mental Retardation / genetics
UTP-Hexose-1-Phosphate Uridylyltransferase / genetics
Urogenital Abnormalities
Reg. No./Substance:
EC Uridylyltransferase

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