Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases
Two male infants with partial trisomy 22 resulting from a rearrangement between chromosomes 11/22 and 16/22 were admitted to the Children's Hospital of the University of Leipzig within the space of two months. The characteristic phenotype of the infants is described and compared with the data o...
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| Veröffentlicht in: | Acta Paediatrica 2003-07, Vol.92 (7), p.865-868 |
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| container_title | Acta Paediatrica |
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| creator | Werding, N Holland, H Hueckel, D Froster, UG Häusler, HJ Kiess, W |
| description | Two male infants with partial trisomy 22 resulting from a rearrangement between chromosomes 11/22 and 16/22 were admitted to the Children's Hospital of the University of Leipzig within the space of two months. The characteristic phenotype of the infants is described and compared with the data on liveborn infants with trisomy 22, as reported in the literature. One of the infants reported here showed a prenatally detected hygroma colli. To the best of our knowledge this is the first description of a hygroma colli in this chromosomal disorder.
Conclusion: Infants with trisomy 22 can present with variable phenotypes. It is important to bear the phenotype of chromosome 22 infants in mind. |
| doi_str_mv | 10.1111/j.1651-2227.2003.tb02550.x |
| format | Article |
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Conclusion: Infants with trisomy 22 can present with variable phenotypes. It is important to bear the phenotype of chromosome 22 infants in mind.</description><identifier>ISSN: 0803-5253</identifier><identifier>EISSN: 1651-2227</identifier><identifier>DOI: 10.1111/j.1651-2227.2003.tb02550.x</identifier><identifier>PMID: 12892172</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Abnormalities, Multiple ; Biological and medical sciences ; Chromosome aberrations ; Chromosomes, Human, Pair 11 - genetics ; Chromosomes, Human, Pair 16 - genetics ; Chromosomes, Human, Pair 22 - genetics ; DNA Mutational Analysis ; Gastroenterology. Liver. Pancreas. Abdomen ; Genotype ; Humans ; Hygroma colli ; Infant, Newborn ; Karyotyping ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Male ; Medical genetics ; Medical sciences ; miscarriage ; Phenotype ; Point Mutation - genetics ; rearrangement ; Trisomy - genetics ; trisomy 22 ; Tumors</subject><ispartof>Acta Paediatrica, 2003-07, Vol.92 (7), p.865-868</ispartof><rights>2003 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2285-f52e578fe818b9442f1686811dec81f2397c81076dc0b964864e24b2a3a6ca223</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1651-2227.2003.tb02550.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1651-2227.2003.tb02550.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14940908$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12892172$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Werding, N</creatorcontrib><creatorcontrib>Holland, H</creatorcontrib><creatorcontrib>Hueckel, D</creatorcontrib><creatorcontrib>Froster, UG</creatorcontrib><creatorcontrib>Häusler, HJ</creatorcontrib><creatorcontrib>Kiess, W</creatorcontrib><title>Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases</title><title>Acta Paediatrica</title><addtitle>Acta Paediatr</addtitle><description>Two male infants with partial trisomy 22 resulting from a rearrangement between chromosomes 11/22 and 16/22 were admitted to the Children's Hospital of the University of Leipzig within the space of two months. The characteristic phenotype of the infants is described and compared with the data on liveborn infants with trisomy 22, as reported in the literature. One of the infants reported here showed a prenatally detected hygroma colli. To the best of our knowledge this is the first description of a hygroma colli in this chromosomal disorder.
Conclusion: Infants with trisomy 22 can present with variable phenotypes. It is important to bear the phenotype of chromosome 22 infants in mind.</description><subject>Abnormalities, Multiple</subject><subject>Biological and medical sciences</subject><subject>Chromosome aberrations</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>Chromosomes, Human, Pair 16 - genetics</subject><subject>Chromosomes, Human, Pair 22 - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Genotype</subject><subject>Humans</subject><subject>Hygroma colli</subject><subject>Infant, Newborn</subject><subject>Karyotyping</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>miscarriage</subject><subject>Phenotype</subject><subject>Point Mutation - genetics</subject><subject>rearrangement</subject><subject>Trisomy - genetics</subject><subject>trisomy 22</subject><subject>Tumors</subject><issn>0803-5253</issn><issn>1651-2227</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkF9v0zAUxS0EYmXwFZCFBG8J9k3sOHtAqibYGBVUiD-PluPejHRJ3Nmu2n77uWq0PeOXa-v-zrnXh5B3nOU8nY_rnEvBMwCocmCsyGPDQAiW75-R2WPrOZkxxYpMgCjOyKsQ1oxBUZfyJTnjoGrgFczI3dL42JmeRt8FNxwoAPUYtn3sxlvaejekp_HejLc44BgDbTDuEEdq_6WmSxoMNC2VdGZcUS7T7YKapNo4H6lradw5ak3A8Jq8aE0f8M1Uz8nvL59_XV5nix9XXy_ni8wCKJG1AlBUqkXFVVOXJbRcKqk4X6FVvE1_qFJllVxZ1tSyVLJEKBswhZHWABTn5MPJd-Pd_RZD1EMXLPa9GdFtg64KwZQAnsCLE2i9C8Fjqze-G4w_aM70MWq91sc89TFPfYxaT1HrfRK_naZsmwFXT9Ip2wS8nwATrOnblKHtwhNX1iWrmUrcpxO363o8_McKer6cKymSQXYy6ELE_aOB8XdaVkUl9N_vV_rnn5t6uVx80zfFA-D8qI4</recordid><startdate>200307</startdate><enddate>200307</enddate><creator>Werding, N</creator><creator>Holland, H</creator><creator>Hueckel, D</creator><creator>Froster, UG</creator><creator>Häusler, HJ</creator><creator>Kiess, W</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><scope>BSCLL</scope><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>200307</creationdate><title>Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases</title><author>Werding, N ; Holland, H ; Hueckel, D ; Froster, UG ; Häusler, HJ ; Kiess, W</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2285-f52e578fe818b9442f1686811dec81f2397c81076dc0b964864e24b2a3a6ca223</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Abnormalities, Multiple</topic><topic>Biological and medical sciences</topic><topic>Chromosome aberrations</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>Chromosomes, Human, Pair 16 - genetics</topic><topic>Chromosomes, Human, Pair 22 - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Genotype</topic><topic>Humans</topic><topic>Hygroma colli</topic><topic>Infant, Newborn</topic><topic>Karyotyping</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>miscarriage</topic><topic>Phenotype</topic><topic>Point Mutation - genetics</topic><topic>rearrangement</topic><topic>Trisomy - genetics</topic><topic>trisomy 22</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Werding, N</creatorcontrib><creatorcontrib>Holland, H</creatorcontrib><creatorcontrib>Hueckel, D</creatorcontrib><creatorcontrib>Froster, UG</creatorcontrib><creatorcontrib>Häusler, HJ</creatorcontrib><creatorcontrib>Kiess, W</creatorcontrib><collection>Istex</collection><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>Acta Paediatrica</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Werding, N</au><au>Holland, H</au><au>Hueckel, D</au><au>Froster, UG</au><au>Häusler, HJ</au><au>Kiess, W</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases</atitle><jtitle>Acta Paediatrica</jtitle><addtitle>Acta Paediatr</addtitle><date>2003-07</date><risdate>2003</risdate><volume>92</volume><issue>7</issue><spage>865</spage><epage>868</epage><pages>865-868</pages><issn>0803-5253</issn><eissn>1651-2227</eissn><abstract>Two male infants with partial trisomy 22 resulting from a rearrangement between chromosomes 11/22 and 16/22 were admitted to the Children's Hospital of the University of Leipzig within the space of two months. The characteristic phenotype of the infants is described and compared with the data on liveborn infants with trisomy 22, as reported in the literature. One of the infants reported here showed a prenatally detected hygroma colli. To the best of our knowledge this is the first description of a hygroma colli in this chromosomal disorder.
Conclusion: Infants with trisomy 22 can present with variable phenotypes. It is important to bear the phenotype of chromosome 22 infants in mind.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>12892172</pmid><doi>10.1111/j.1651-2227.2003.tb02550.x</doi><tpages>4</tpages></addata></record> |
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| ispartof | Acta Paediatrica, 2003-07, Vol.92 (7), p.865-868 |
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| language | eng |
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| source | MEDLINE; Access via Wiley Online Library; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple Biological and medical sciences Chromosome aberrations Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 16 - genetics Chromosomes, Human, Pair 22 - genetics DNA Mutational Analysis Gastroenterology. Liver. Pancreas. Abdomen Genotype Humans Hygroma colli Infant, Newborn Karyotyping Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical genetics Medical sciences miscarriage Phenotype Point Mutation - genetics rearrangement Trisomy - genetics trisomy 22 Tumors |
| title | Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases |
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