Mosaic trisomy 15 and hemihypertrophy
We report a case of mosaic trisomy 15 with mental retardation, facial dysmorphism, and hemihypertrophy, but no manifestations of Prader-Willi or Angelman syndromes. Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for chromosome 15 was excluded by molecular analysis. P...
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| Veröffentlicht in: | Annales de génétique 2001-07, Vol.44 (3), p.143-148 |
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| container_title | Annales de génétique |
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| creator | Gérard-Blanluet, Marion Elbez, Annie Bazin, Anne Danan, Claude Verloes, Alain Janaud, Jean-Claude |
| description | We report a case of mosaic trisomy 15 with mental retardation, facial dysmorphism, and hemihypertrophy, but no manifestations of Prader-Willi or Angelman syndromes. Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for chromosome 15 was excluded by molecular analysis. Post-natal blood karyotype and examination were normal. Mosaic was confirmed on skin fibroblasts, placenta and cord. Evolution was marked by progressive right hemi-hypertrophy, and developmental delay. Our case is the first patient reported with hemihypertrophy associated with mosaic trisomy 15. The relevant literature is reviewed. |
| doi_str_mv | 10.1016/S0003-3995(01)01080-2 |
| format | Article |
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Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for chromosome 15 was excluded by molecular analysis. Post-natal blood karyotype and examination were normal. Mosaic was confirmed on skin fibroblasts, placenta and cord. Evolution was marked by progressive right hemi-hypertrophy, and developmental delay. Our case is the first patient reported with hemihypertrophy associated with mosaic trisomy 15. 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Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for chromosome 15 was excluded by molecular analysis. Post-natal blood karyotype and examination were normal. Mosaic was confirmed on skin fibroblasts, placenta and cord. Evolution was marked by progressive right hemi-hypertrophy, and developmental delay. Our case is the first patient reported with hemihypertrophy associated with mosaic trisomy 15. The relevant literature is reviewed.</description><subject>Adult</subject><subject>Amniocentesis</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Chromosome aberrations</subject><subject>chromosome abnormality</subject><subject>Chromosome Banding</subject><subject>Chromosomes, Human, Pair 15</subject><subject>Female</subject><subject>hemihypertrophy</subject><subject>Humans</subject><subject>Hypertrophy - diagnosis</subject><subject>Hypertrophy - genetics</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>mental retardation</subject><subject>Mosaicism</subject><subject>Phenotype</subject><subject>Syndrome</subject><subject>Trisomy</subject><subject>trisomy 15</subject><subject>Uniparental Disomy</subject><issn>0003-3995</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMlOwzAQQH0A0VL4BFAuRXAIeM1yQqhik4o4AGdr6oxVo2zYKVL-nrSN4MhpNKM32yPkjNFrRlly80YpFbHIc3VJ2RVlNKMxPyDT3_KEHIfwOaSKJvKITBhLcsl5OiXzlyaAM1HnXWiqPmIqgrqI1li5dd-i73zTrvsTcmihDHg6xhn5eLh_XzzFy9fH58XdMjYiZ128YgpSNFJmIFCoFC3QBI21CLkRHFPGOE1gpZCjyQCKNEegWSILawsJVszIxX5u65uvDYZOVy4YLEuosdkEnXKu-HD7AKo9aHwTgkerW-8q8L1mVG-d6J0TvX1eU6Z3TjQf-s7HBZtVhcVf1yhkAOYjAMFAaT3UxoU_TjKZKaEG7nbP4aDj26HXwTisDRbOo-l00bh_TvkB0Hp_gw</recordid><startdate>20010701</startdate><enddate>20010701</enddate><creator>Gérard-Blanluet, Marion</creator><creator>Elbez, Annie</creator><creator>Bazin, Anne</creator><creator>Danan, Claude</creator><creator>Verloes, Alain</creator><creator>Janaud, Jean-Claude</creator><general>Elsevier SAS</general><general>Société d'édition de l'association d'enseignement médical des hôpitaux de Paris</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20010701</creationdate><title>Mosaic trisomy 15 and hemihypertrophy</title><author>Gérard-Blanluet, Marion ; Elbez, Annie ; Bazin, Anne ; Danan, Claude ; Verloes, Alain ; Janaud, Jean-Claude</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c391t-b15a7ec448a3e357efa06ecffea9c32e711206ab5e2ec8aad79ea0864dffd4af3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adult</topic><topic>Amniocentesis</topic><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>Chromosome aberrations</topic><topic>chromosome abnormality</topic><topic>Chromosome Banding</topic><topic>Chromosomes, Human, Pair 15</topic><topic>Female</topic><topic>hemihypertrophy</topic><topic>Humans</topic><topic>Hypertrophy - diagnosis</topic><topic>Hypertrophy - genetics</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>mental retardation</topic><topic>Mosaicism</topic><topic>Phenotype</topic><topic>Syndrome</topic><topic>Trisomy</topic><topic>trisomy 15</topic><topic>Uniparental Disomy</topic><toplevel>online_resources</toplevel><creatorcontrib>Gérard-Blanluet, Marion</creatorcontrib><creatorcontrib>Elbez, Annie</creatorcontrib><creatorcontrib>Bazin, Anne</creatorcontrib><creatorcontrib>Danan, Claude</creatorcontrib><creatorcontrib>Verloes, Alain</creatorcontrib><creatorcontrib>Janaud, Jean-Claude</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>Annales de génétique</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gérard-Blanluet, Marion</au><au>Elbez, Annie</au><au>Bazin, Anne</au><au>Danan, Claude</au><au>Verloes, Alain</au><au>Janaud, Jean-Claude</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mosaic trisomy 15 and hemihypertrophy</atitle><jtitle>Annales de génétique</jtitle><addtitle>Ann Genet</addtitle><date>2001-07-01</date><risdate>2001</risdate><volume>44</volume><issue>3</issue><spage>143</spage><epage>148</epage><pages>143-148</pages><issn>0003-3995</issn><coden>AGTQAH</coden><abstract>We report a case of mosaic trisomy 15 with mental retardation, facial dysmorphism, and hemihypertrophy, but no manifestations of Prader-Willi or Angelman syndromes. Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for chromosome 15 was excluded by molecular analysis. Post-natal blood karyotype and examination were normal. Mosaic was confirmed on skin fibroblasts, placenta and cord. Evolution was marked by progressive right hemi-hypertrophy, and developmental delay. Our case is the first patient reported with hemihypertrophy associated with mosaic trisomy 15. The relevant literature is reviewed.</abstract><cop>Paris</cop><pub>Elsevier SAS</pub><pmid>11694227</pmid><doi>10.1016/S0003-3995(01)01080-2</doi><tpages>6</tpages></addata></record> |
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| subjects | Adult Amniocentesis Biological and medical sciences Child, Preschool Chromosome aberrations chromosome abnormality Chromosome Banding Chromosomes, Human, Pair 15 Female hemihypertrophy Humans Hypertrophy - diagnosis Hypertrophy - genetics Intellectual Disability - genetics Male Medical genetics Medical sciences mental retardation Mosaicism Phenotype Syndrome Trisomy trisomy 15 Uniparental Disomy |
| title | Mosaic trisomy 15 and hemihypertrophy |
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