Document Detail

Interstitial 7q deletion [46,XY,del (7) (pter----cen::q112----qter)] in a retarded quadriplegic boy with normal beta glucuronidase.
MedLine Citation:
PMID:  3096136     Owner:  NLM     Status:  MEDLINE    
A 14-year-old severely retarded male with deletion of chromosomal band 7 cen----q112 is described. Clinical features include short stature, microcephaly, unusual facies with narrow forehead, short nose, malar hypoplasia, protruding alveolar ridges and incisors, receding chin, relatively long philtrum, and large ears. In addition, he had bilateral inguinal herniae cryptorchidism with hypogonadism, pulmonic stenosis, and spastic quadriplegia. Normal activity of beta-glucuronidase was found in the patient's leukocytes. This finding suggests that the gene is not in the deleted region, narrowing the smallest region of overlap to 7q112----q22.
M Frydman; J Steinberger; F Shabtai; R Steinherz
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  25     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1986 Oct 
Date Detail:
Created Date:  1986-12-10     Completed Date:  1986-12-10     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:  245-9     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / enzymology,  genetics
Chromosome Deletion*
Chromosomes, Human, Pair 7*
Genetic Markers
Glucuronidase / blood,  genetics
Mental Retardation / enzymology,  genetics*
Quadriplegia / enzymology,  genetics*
beta-Galactosidase / genetics
Reg. No./Substance:
0/Genetic Markers; EC; EC

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

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