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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Shapira, S. K. Dumanski, J. P. Cullen, R. F. Kurczynski, T. W. Siegel-Bartelt, J. McDermid, H. E. French, B. N. Gorski, J. L. Nesslinger, N. J. |
| Description | Country affiliation: Canada Author Affiliation: Nesslinger NJ ( Department of Genetics, University of Alberta, Edmonton, Canada.) |
| Abstract | We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includes generalized developmental delay, normal or accelerated growth, hypotonia, severe delays in expressive speech, and mild facial dysmorphic features. Dosage analysis using a series of genetically mapped probes showed that the proximal breakpoints of the deletions varied over approximately 13.8 cM, between loci D22S92 and D22S94. The most distally mapped locus, arylsulfatase A (ARSA), was deleted in all seven patients. Therefore, the smallest region of overlap (critical region) extends between locus D22S94 and a region distal to ARSA, a distance of > 25.5 cM. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 3 |
| Volume Number | 54 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1994-03-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Abnormalities, Multiple Genetics Chromosome Deletion Chromosomes, Human, Pair 22 Polymorphism, Restriction Fragment Length Chromosome Mapping Deoxyribonuclease Ecori Deoxyribonuclease Hindiii Genetic Markers Karyotyping Pedigree Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article Case study |
| Subject | Genetics Genetics (clinical) |
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