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Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data
During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and f...
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Published in: | American journal of human genetics 1994-11, Vol.55 (5), p.923-931 |
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creator | Hamel, B C Smits, A P de Graaff, E Smeets, D F Schoute, F Eussen, B H Knight, S J Davies, K E Assman-Hulsmans, C F Oostra, B A |
description | During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected. |
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Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 7977354</identifier><language>eng</language><publisher>United States</publisher><subject>Adolescent ; Adult ; Base Sequence ; Child ; Chromosome Fragile Sites ; Chromosome Fragility ; DNA - analysis ; Female ; Fragile X Syndrome - genetics ; Fragile X Syndrome - psychology ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability - genetics ; Intellectual Disability - psychology ; Intelligence Tests ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree ; Phenotype ; Repetitive Sequences, Nucleic Acid ; X Chromosome</subject><ispartof>American journal of human genetics, 1994-11, Vol.55 (5), p.923-931</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918338/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918338/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7977354$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hamel, B C</creatorcontrib><creatorcontrib>Smits, A P</creatorcontrib><creatorcontrib>de Graaff, E</creatorcontrib><creatorcontrib>Smeets, D F</creatorcontrib><creatorcontrib>Schoute, F</creatorcontrib><creatorcontrib>Eussen, B H</creatorcontrib><creatorcontrib>Knight, S J</creatorcontrib><creatorcontrib>Davies, K E</creatorcontrib><creatorcontrib>Assman-Hulsmans, C F</creatorcontrib><creatorcontrib>Oostra, B A</creatorcontrib><title>Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Base Sequence</subject><subject>Child</subject><subject>Chromosome Fragile Sites</subject><subject>Chromosome Fragility</subject><subject>DNA - analysis</subject><subject>Female</subject><subject>Fragile X Syndrome - genetics</subject><subject>Fragile X Syndrome - psychology</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Intellectual Disability - genetics</subject><subject>Intellectual Disability - psychology</subject><subject>Intelligence Tests</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Repetitive Sequences, Nucleic Acid</subject><subject>X Chromosome</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><recordid>eNpVkF9LwzAUxYMoc04_gpAnnywkzdo0PghjbCoMBP-AbyFNbrtImtQ2FfrtrThEny6He87vwDlCc5oxnuQ5yY7RnBCSJiIV_BSd9f07IZQWhM3QjAvOWbacI_kMdQe1ijZ4HCq8fVq9bbD1WGGnuhpwpRrrxhusnfVWK3eN237U-9BA7Ky-xnqMoQYP8Vsob3ATHOhhCmOjojpHJ5VyPVwc7gK9bjcv6_tk93j3sF7tkjbNaUyMpoqywtBlWjCjdQoVJ4YREFCCyXUOTADToNMUSCEYJ6UCvSS6FJnJWMkW6PaH2w5lA0aDj51ysu1so7pRBmXl_4-3e1mHT0kFLRgrJsDVAdCFjwH6KBvba3BOeQhDL3leZGSacjJe_m36rThMyr4A1qB10w</recordid><startdate>199411</startdate><enddate>199411</enddate><creator>Hamel, B C</creator><creator>Smits, A P</creator><creator>de Graaff, E</creator><creator>Smeets, D F</creator><creator>Schoute, F</creator><creator>Eussen, B H</creator><creator>Knight, S J</creator><creator>Davies, K E</creator><creator>Assman-Hulsmans, C F</creator><creator>Oostra, B A</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>199411</creationdate><title>Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data</title><author>Hamel, B C ; Smits, A P ; de Graaff, E ; Smeets, D F ; Schoute, F ; Eussen, B H ; Knight, S J ; Davies, K E ; Assman-Hulsmans, C F ; Oostra, B A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p261t-dc1a138d14283dcc2ef70d30e9ebed6c6e39e3cec22e089370baec40cb95d53b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Base Sequence</topic><topic>Child</topic><topic>Chromosome Fragile Sites</topic><topic>Chromosome Fragility</topic><topic>DNA - analysis</topic><topic>Female</topic><topic>Fragile X Syndrome - genetics</topic><topic>Fragile X Syndrome - psychology</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Intellectual Disability - genetics</topic><topic>Intellectual Disability - psychology</topic><topic>Intelligence Tests</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Repetitive Sequences, Nucleic Acid</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hamel, B C</creatorcontrib><creatorcontrib>Smits, A P</creatorcontrib><creatorcontrib>de Graaff, E</creatorcontrib><creatorcontrib>Smeets, D F</creatorcontrib><creatorcontrib>Schoute, F</creatorcontrib><creatorcontrib>Eussen, B H</creatorcontrib><creatorcontrib>Knight, S J</creatorcontrib><creatorcontrib>Davies, K E</creatorcontrib><creatorcontrib>Assman-Hulsmans, C F</creatorcontrib><creatorcontrib>Oostra, B A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hamel, B C</au><au>Smits, A P</au><au>de Graaff, E</au><au>Smeets, D F</au><au>Schoute, F</au><au>Eussen, B H</au><au>Knight, S J</au><au>Davies, K E</au><au>Assman-Hulsmans, C F</au><au>Oostra, B A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1994-11</date><risdate>1994</risdate><volume>55</volume><issue>5</issue><spage>923</spage><epage>931</epage><pages>923-931</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><abstract>During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected.</abstract><cop>United States</cop><pmid>7977354</pmid><tpages>9</tpages></addata></record> |
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subjects | Adolescent Adult Base Sequence Child Chromosome Fragile Sites Chromosome Fragility DNA - analysis Female Fragile X Syndrome - genetics Fragile X Syndrome - psychology Humans In Situ Hybridization, Fluorescence Intellectual Disability - genetics Intellectual Disability - psychology Intelligence Tests Male Middle Aged Molecular Sequence Data Pedigree Phenotype Repetitive Sequences, Nucleic Acid X Chromosome |
title | Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data |
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