C-band polymorphism: Comparison between trisomy 21 cases and mentally retarded controls
C‐banding was done prospectively on 50 Down syndrome (trisomy 21) cases and 50 mentally retarded controls. Heterochromatin was quantitated by measuring the lengths of heterochromatin blocks and comparing these segments to the length of the short arm of chromosome 16 for 1, 9 and 16 heterochromatin,...
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| Veröffentlicht in: | American journal of medical genetics 1980, Vol.5 (3), p.265-269 |
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| container_title | American journal of medical genetics |
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| creator | Funderburk, S. J. Klisak, I. Sparkes, R. S. Westlake, Joan Hoehn, Holder |
| description | C‐banding was done prospectively on 50 Down syndrome (trisomy 21) cases and 50 mentally retarded controls. Heterochromatin was quantitated by measuring the lengths of heterochromatin blocks and comparing these segments to the length of the short arm of chromosome 16 for 1, 9 and 16 heterochromatin, and to the total length of the Y chromosome for the Y heterochromatin in the distal long arm. For the first 30 individuals in each group, there was no difference in the mean lengths of C‐band blocks of the 1, 9, 16 and Y chromosomes. For the total sample, there also was no difference between the trisomy 21 cases and controls in the number or size of pericentric inversions involving the heterochromatin blocks of chromosomes 1 and 9. Assuming random segregation of the parental C‐band polymorphisms, this study gives no evidence for an association between such polymorphisms of the 1, 9, 16 and Y chromosomes and nondisjunction of chromosome 21. |
| doi_str_mv | 10.1002/ajmg.1320050308 |
| format | Article |
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J. ; Klisak, I. ; Sparkes, R. S. ; Westlake, Joan ; Hoehn, Holder</creator><creatorcontrib>Funderburk, S. J. ; Klisak, I. ; Sparkes, R. S. ; Westlake, Joan ; Hoehn, Holder</creatorcontrib><description>C‐banding was done prospectively on 50 Down syndrome (trisomy 21) cases and 50 mentally retarded controls. Heterochromatin was quantitated by measuring the lengths of heterochromatin blocks and comparing these segments to the length of the short arm of chromosome 16 for 1, 9 and 16 heterochromatin, and to the total length of the Y chromosome for the Y heterochromatin in the distal long arm. For the first 30 individuals in each group, there was no difference in the mean lengths of C‐band blocks of the 1, 9, 16 and Y chromosomes. For the total sample, there also was no difference between the trisomy 21 cases and controls in the number or size of pericentric inversions involving the heterochromatin blocks of chromosomes 1 and 9. Assuming random segregation of the parental C‐band polymorphisms, this study gives no evidence for an association between such polymorphisms of the 1, 9, 16 and Y chromosomes and nondisjunction of chromosome 21.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320050308</identifier><identifier>PMID: 6447457</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Chromosome Banding ; chromosome C-banding ; Chromosome Inversion ; Down syndrome ; Down Syndrome - genetics ; Genetic Variation ; Heterochromatin - analysis ; heterochromatin polymorphism ; Humans ; Intellectual Disability - genetics ; Karyotyping ; mental retardation ; nondisjunction ; Polymorphism, Genetic ; trisomy 21</subject><ispartof>American journal of medical genetics, 1980, Vol.5 (3), p.265-269</ispartof><rights>Copyright © 1980 Wiley‐Liss, Inc., A Wiley Company</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3368-9c593cd5b4315a4ff7033b56e4f6c5134243c17517108716b888adde939a84243</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,4010,27900,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6447457$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Funderburk, S. J.</creatorcontrib><creatorcontrib>Klisak, I.</creatorcontrib><creatorcontrib>Sparkes, R. S.</creatorcontrib><creatorcontrib>Westlake, Joan</creatorcontrib><creatorcontrib>Hoehn, Holder</creatorcontrib><title>C-band polymorphism: Comparison between trisomy 21 cases and mentally retarded controls</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>C‐banding was done prospectively on 50 Down syndrome (trisomy 21) cases and 50 mentally retarded controls. Heterochromatin was quantitated by measuring the lengths of heterochromatin blocks and comparing these segments to the length of the short arm of chromosome 16 for 1, 9 and 16 heterochromatin, and to the total length of the Y chromosome for the Y heterochromatin in the distal long arm. For the first 30 individuals in each group, there was no difference in the mean lengths of C‐band blocks of the 1, 9, 16 and Y chromosomes. For the total sample, there also was no difference between the trisomy 21 cases and controls in the number or size of pericentric inversions involving the heterochromatin blocks of chromosomes 1 and 9. Assuming random segregation of the parental C‐band polymorphisms, this study gives no evidence for an association between such polymorphisms of the 1, 9, 16 and Y chromosomes and nondisjunction of chromosome 21.</description><subject>Chromosome Banding</subject><subject>chromosome C-banding</subject><subject>Chromosome Inversion</subject><subject>Down syndrome</subject><subject>Down Syndrome - genetics</subject><subject>Genetic Variation</subject><subject>Heterochromatin - analysis</subject><subject>heterochromatin polymorphism</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Karyotyping</subject><subject>mental retardation</subject><subject>nondisjunction</subject><subject>Polymorphism, Genetic</subject><subject>trisomy 21</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1980</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtP3DAUhS1URKeUNatKXnUX8DN2YIUGOrwrJBBLy3Fu2kAcBzsjyL9nohmBuurKuj7n-xYHoX1KDigh7NA--T8HlDNCJOFEb6EZJUWe6ZzpL2hGqNCZYkXxFX1L6YkQuvpgO2gnF0IJqWbocZ6VtqtwH9rRh9j_bZI_wvPgexubFDpcwvAK0OFhOv2IGcXOJkh4ojx0g23bEUcYbKygwi50Qwxt-o62a9sm2Nu8u-jh19n9_Dy7_r24mJ9cZ47zXGeFkwV3lSwFp9KKulaE81LmIOrcScoFE9xRJamiRCual1prW1VQ8MLqKdxFP9fePoaXJaTB-CY5aFvbQVgmoyRjTBKyKh6uiy6GlCLUpo-Nt3E0lJhpSjNNaT6nXBE_Nupl6aH66G-2W-XH6_y1aWH8n86cXN4s_rFna7pJA7x90DY-m1xxJc3j7cLcXt3dX6nTO3PD3wFs2481</recordid><startdate>1980</startdate><enddate>1980</enddate><creator>Funderburk, S. 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S. ; Westlake, Joan ; Hoehn, Holder</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3368-9c593cd5b4315a4ff7033b56e4f6c5134243c17517108716b888adde939a84243</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1980</creationdate><topic>Chromosome Banding</topic><topic>chromosome C-banding</topic><topic>Chromosome Inversion</topic><topic>Down syndrome</topic><topic>Down Syndrome - genetics</topic><topic>Genetic Variation</topic><topic>Heterochromatin - analysis</topic><topic>heterochromatin polymorphism</topic><topic>Humans</topic><topic>Intellectual Disability - genetics</topic><topic>Karyotyping</topic><topic>mental retardation</topic><topic>nondisjunction</topic><topic>Polymorphism, Genetic</topic><topic>trisomy 21</topic><toplevel>online_resources</toplevel><creatorcontrib>Funderburk, S. J.</creatorcontrib><creatorcontrib>Klisak, I.</creatorcontrib><creatorcontrib>Sparkes, R. S.</creatorcontrib><creatorcontrib>Westlake, Joan</creatorcontrib><creatorcontrib>Hoehn, Holder</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Funderburk, S. J.</au><au>Klisak, I.</au><au>Sparkes, R. S.</au><au>Westlake, Joan</au><au>Hoehn, Holder</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>C-band polymorphism: Comparison between trisomy 21 cases and mentally retarded controls</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1980</date><risdate>1980</risdate><volume>5</volume><issue>3</issue><spage>265</spage><epage>269</epage><pages>265-269</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><abstract>C‐banding was done prospectively on 50 Down syndrome (trisomy 21) cases and 50 mentally retarded controls. Heterochromatin was quantitated by measuring the lengths of heterochromatin blocks and comparing these segments to the length of the short arm of chromosome 16 for 1, 9 and 16 heterochromatin, and to the total length of the Y chromosome for the Y heterochromatin in the distal long arm. For the first 30 individuals in each group, there was no difference in the mean lengths of C‐band blocks of the 1, 9, 16 and Y chromosomes. For the total sample, there also was no difference between the trisomy 21 cases and controls in the number or size of pericentric inversions involving the heterochromatin blocks of chromosomes 1 and 9. Assuming random segregation of the parental C‐band polymorphisms, this study gives no evidence for an association between such polymorphisms of the 1, 9, 16 and Y chromosomes and nondisjunction of chromosome 21.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>6447457</pmid><doi>10.1002/ajmg.1320050308</doi><tpages>5</tpages></addata></record> |
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| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1980, Vol.5 (3), p.265-269 |
| issn | 0148-7299 1096-8628 |
| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Chromosome Banding chromosome C-banding Chromosome Inversion Down syndrome Down Syndrome - genetics Genetic Variation Heterochromatin - analysis heterochromatin polymorphism Humans Intellectual Disability - genetics Karyotyping mental retardation nondisjunction Polymorphism, Genetic trisomy 21 |
| title | C-band polymorphism: Comparison between trisomy 21 cases and mentally retarded controls |
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