Familial incidence of congenital anorectal anomalies
We describe two families with pedigrees over three and two generations with nine members affected with anorectal malformations. Both pedigrees are compatible with autosomal dominant inheritance with variable penetrance and expression or with multifactorial inheritance with a high genetic load. The r...
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| Veröffentlicht in: | Journal of pediatric surgery 1984-04, Vol.19 (2), p.179-182 |
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| container_title | Journal of pediatric surgery |
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| creator | Schwoebel, Marcus G. Hirsig, Johannes Schinzel, Albert Stauffer, Urs G. |
| description | We describe two families with pedigrees over three and two generations with nine members affected with anorectal malformations. Both pedigrees are compatible with autosomal dominant inheritance with variable penetrance and expression or with multifactorial inheritance with a high genetic load. The recurrence risk is thought to be in the range of 10% to 20% for first degree relatives of affected members. |
| doi_str_mv | 10.1016/S0022-3468(84)80444-3 |
| format | Article |
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Both pedigrees are compatible with autosomal dominant inheritance with variable penetrance and expression or with multifactorial inheritance with a high genetic load. The recurrence risk is thought to be in the range of 10% to 20% for first degree relatives of affected members.</description><identifier>ISSN: 0022-3468</identifier><identifier>EISSN: 1531-5037</identifier><identifier>DOI: 10.1016/S0022-3468(84)80444-3</identifier><identifier>PMID: 6726575</identifier><identifier>CODEN: JPDSA3</identifier><language>eng</language><publisher>Philadelphia, PA: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Anal Canal - abnormalities ; Anorectal anomalies ; Biological and medical sciences ; Child ; Child, Preschool ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Genetics ; Humans ; Infant, Newborn ; Male ; Malformations ; Medical sciences ; Middle Aged ; multifactorial inheritance ; Pedigree ; Rectum - abnormalities ; Risk ; Stomach. Duodenum. Small intestine. Colon. Rectum. 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Both pedigrees are compatible with autosomal dominant inheritance with variable penetrance and expression or with multifactorial inheritance with a high genetic load. The recurrence risk is thought to be in the range of 10% to 20% for first degree relatives of affected members.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Anal Canal - abnormalities</subject><subject>Anorectal anomalies</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Malformations</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>multifactorial inheritance</subject><subject>Pedigree</subject><subject>Rectum - abnormalities</subject><subject>Risk</subject><subject>Stomach. Duodenum. 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Anus</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schwoebel, Marcus G.</creatorcontrib><creatorcontrib>Hirsig, Johannes</creatorcontrib><creatorcontrib>Schinzel, Albert</creatorcontrib><creatorcontrib>Stauffer, Urs G.</creatorcontrib><collection>Pascal-Francis</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>Journal of pediatric surgery</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schwoebel, Marcus G.</au><au>Hirsig, Johannes</au><au>Schinzel, Albert</au><au>Stauffer, Urs G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial incidence of congenital anorectal anomalies</atitle><jtitle>Journal of pediatric surgery</jtitle><addtitle>J Pediatr Surg</addtitle><date>1984-04</date><risdate>1984</risdate><volume>19</volume><issue>2</issue><spage>179</spage><epage>182</epage><pages>179-182</pages><issn>0022-3468</issn><eissn>1531-5037</eissn><coden>JPDSA3</coden><abstract>We describe two families with pedigrees over three and two generations with nine members affected with anorectal malformations. Both pedigrees are compatible with autosomal dominant inheritance with variable penetrance and expression or with multifactorial inheritance with a high genetic load. The recurrence risk is thought to be in the range of 10% to 20% for first degree relatives of affected members.</abstract><cop>Philadelphia, PA</cop><pub>Elsevier Inc</pub><pmid>6726575</pmid><doi>10.1016/S0022-3468(84)80444-3</doi><tpages>4</tpages></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Adult Anal Canal - abnormalities Anorectal anomalies Biological and medical sciences Child Child, Preschool Female Gastroenterology. Liver. Pancreas. Abdomen Genetics Humans Infant, Newborn Male Malformations Medical sciences Middle Aged multifactorial inheritance Pedigree Rectum - abnormalities Risk Stomach. Duodenum. Small intestine. Colon. Rectum. Anus |
| title | Familial incidence of congenital anorectal anomalies |
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