Deletion of 22q11 in two brothers with different phenotype
We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowled...
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| Veröffentlicht in: | American journal of medical genetics 1998-01, Vol.75 (3), p.288-291 |
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| container_title | American journal of medical genetics |
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| creator | Kasprzak, Lidia Der Kaloustian, Vazken M. Elliott, Alison M. Shevell, Michael Lejtenyi, Christine Eydoux, Patrice |
| description | We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowledge, this is the first report of a deletion of 22q11 in two sibs with different phenotypes and apparent maternal mosaicism detected with FISH. This family illustrates the variability of the syndrome and further demonstrates the possibility of gonadal mosaicism for a microdeletion. Prenatal diagnosis may be offered after the birth of a child with a 22q11 deletion, even in the absence of parental chromosomal anomalies. Am. J. Med. Genet. 75:288–291, 1998. © 1998 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/(SICI)1096-8628(19980123)75:3<288::AID-AJMG12>3.0.CO;2-L |
| format | Article |
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One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowledge, this is the first report of a deletion of 22q11 in two sibs with different phenotypes and apparent maternal mosaicism detected with FISH. This family illustrates the variability of the syndrome and further demonstrates the possibility of gonadal mosaicism for a microdeletion. Prenatal diagnosis may be offered after the birth of a child with a 22q11 deletion, even in the absence of parental chromosomal anomalies. Am. J. Med. Genet. 75:288–291, 1998. © 1998 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/(SICI)1096-8628(19980123)75:3<288::AID-AJMG12>3.0.CO;2-L</identifier><identifier>PMID: 9475599</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>22q11 ; Child ; Child, Preschool ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 22 - genetics ; DiGeorge syndrome ; DiGeorge Syndrome - genetics ; Genetic Markers ; gonadal mosaicism ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; microdeletion ; Mosaicism - genetics ; Phenotype ; prenatal diagnosis</subject><ispartof>American journal of medical genetics, 1998-01, Vol.75 (3), p.288-291</ispartof><rights>Copyright © 1998 Wiley‐Liss, Inc.</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3232-651639ef8598498e5bbcf6752fd6691f136bd09018753e704a9ee8da54025a553</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9475599$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kasprzak, Lidia</creatorcontrib><creatorcontrib>Der Kaloustian, Vazken M.</creatorcontrib><creatorcontrib>Elliott, Alison M.</creatorcontrib><creatorcontrib>Shevell, Michael</creatorcontrib><creatorcontrib>Lejtenyi, Christine</creatorcontrib><creatorcontrib>Eydoux, Patrice</creatorcontrib><title>Deletion of 22q11 in two brothers with different phenotype</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowledge, this is the first report of a deletion of 22q11 in two sibs with different phenotypes and apparent maternal mosaicism detected with FISH. This family illustrates the variability of the syndrome and further demonstrates the possibility of gonadal mosaicism for a microdeletion. Prenatal diagnosis may be offered after the birth of a child with a 22q11 deletion, even in the absence of parental chromosomal anomalies. Am. J. Med. Genet. 75:288–291, 1998. © 1998 Wiley‐Liss, Inc.</description><subject>22q11</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Banding</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 22 - genetics</subject><subject>DiGeorge syndrome</subject><subject>DiGeorge Syndrome - genetics</subject><subject>Genetic Markers</subject><subject>gonadal mosaicism</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Male</subject><subject>microdeletion</subject><subject>Mosaicism - genetics</subject><subject>Phenotype</subject><subject>prenatal diagnosis</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF2L00AUhgdR1rr6E4Rcye5F6nxkJjNVxJJq7RItorKLN4ekOUOjadKdSan9905J7Y2CVwPvOfO8h4eQt4yOGaX85dWXRba4ZtSoWCuur5gxmjIurlM5Ea-51pPJdDGLpzcf54y_EWM6zpaveJw_IKPzp4dkRFmi45Qb85g88f4HpSwE_IJcmCSV0pgRmcywwb7u2qizEef3jEV1G_X7Lipd16_R-Whf9-uoqq1Fh20fbdfYdv1hi0_JI1s0Hp-d3kvy7f27r9mHOF_OF9k0j1eCCx4ryZQwaLU0OjEaZVmurEolt5VShlkmVFlRQ5lOpcCUJoVB1FUhE8plIaW4JC8G7tZ19zv0PWxqv8KmKVrsdh5SEzBUiLB4NyyuXOe9QwtbV28KdwBG4agV4KgVjobgaAj-aIVUgoCgFSBohUFrSChkS-CQB_Tz0w27coPVGXzyGObfh_m-bvDwV-9_a__ZekoCPB7gte_x1xleuJ-gUhEYt5_mkN_Km9nd_DNI8RtFxaDV</recordid><startdate>19980123</startdate><enddate>19980123</enddate><creator>Kasprzak, Lidia</creator><creator>Der Kaloustian, Vazken M.</creator><creator>Elliott, Alison M.</creator><creator>Shevell, Michael</creator><creator>Lejtenyi, Christine</creator><creator>Eydoux, Patrice</creator><general>John Wiley & Sons, Inc</general><scope>BSCLL</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>19980123</creationdate><title>Deletion of 22q11 in two brothers with different phenotype</title><author>Kasprzak, Lidia ; Der Kaloustian, Vazken M. ; Elliott, Alison M. ; Shevell, Michael ; Lejtenyi, Christine ; Eydoux, Patrice</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3232-651639ef8598498e5bbcf6752fd6691f136bd09018753e704a9ee8da54025a553</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>22q11</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Banding</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 22 - genetics</topic><topic>DiGeorge syndrome</topic><topic>DiGeorge Syndrome - genetics</topic><topic>Genetic Markers</topic><topic>gonadal mosaicism</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Male</topic><topic>microdeletion</topic><topic>Mosaicism - genetics</topic><topic>Phenotype</topic><topic>prenatal diagnosis</topic><toplevel>online_resources</toplevel><creatorcontrib>Kasprzak, Lidia</creatorcontrib><creatorcontrib>Der Kaloustian, Vazken M.</creatorcontrib><creatorcontrib>Elliott, Alison M.</creatorcontrib><creatorcontrib>Shevell, Michael</creatorcontrib><creatorcontrib>Lejtenyi, Christine</creatorcontrib><creatorcontrib>Eydoux, Patrice</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>Kasprzak, Lidia</au><au>Der Kaloustian, Vazken M.</au><au>Elliott, Alison M.</au><au>Shevell, Michael</au><au>Lejtenyi, Christine</au><au>Eydoux, Patrice</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Deletion of 22q11 in two brothers with different phenotype</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1998-01-23</date><risdate>1998</risdate><volume>75</volume><issue>3</issue><spage>288</spage><epage>291</epage><pages>288-291</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><abstract>We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowledge, this is the first report of a deletion of 22q11 in two sibs with different phenotypes and apparent maternal mosaicism detected with FISH. This family illustrates the variability of the syndrome and further demonstrates the possibility of gonadal mosaicism for a microdeletion. Prenatal diagnosis may be offered after the birth of a child with a 22q11 deletion, even in the absence of parental chromosomal anomalies. Am. J. Med. Genet. 75:288–291, 1998. © 1998 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>John Wiley & Sons, Inc</pub><pmid>9475599</pmid><doi>10.1002/(SICI)1096-8628(19980123)75:3<288::AID-AJMG12>3.0.CO;2-L</doi><tpages>4</tpages></addata></record> |
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| ispartof | American journal of medical genetics, 1998-01, Vol.75 (3), p.288-291 |
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| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | 22q11 Child Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 22 - genetics DiGeorge syndrome DiGeorge Syndrome - genetics Genetic Markers gonadal mosaicism Humans In Situ Hybridization, Fluorescence Karyotyping Male microdeletion Mosaicism - genetics Phenotype prenatal diagnosis |
| title | Deletion of 22q11 in two brothers with different phenotype |
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