Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat
We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3‐qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defin...
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| Veröffentlicht in: | Prenatal diagnosis 1999-12, Vol.19 (12), p.1150-1156 |
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| container_title | Prenatal diagnosis |
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| creator | Goodman, Barbara K. Stone, Kristyne Coddett, Jomo M. Cargile, Colyn B. Gurewitsch, Edith D. Blakemore, Karin J. Stetten, Gail |
| description | We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3‐qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defined by fluorescence in situ hybridization (FISH) analysis using a series of locus‐specific and subtelomeric probes. To our knowledge, only three cases involving a recombinant 7 with duplication of 7q have been reported, two of these being first cousins. The clinical findings in our patient included skeletal abnormalities, facial dysmorphism, dilated cerebral ventricles, microretrognathia and short neck. These findings and some aspects of the neonatal course were consistent with the phenotype previously reported for duplication of distal 7q, without associated monosomy for sequences from another chromosome. Copyright © 1999 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/(SICI)1097-0223(199912)19:12<1150::AID-PD733>3.0.CO;2-0 |
| format | Article |
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The inversion breakpoints were localized and the regions of duplication and deletion were defined by fluorescence in situ hybridization (FISH) analysis using a series of locus‐specific and subtelomeric probes. To our knowledge, only three cases involving a recombinant 7 with duplication of 7q have been reported, two of these being first cousins. The clinical findings in our patient included skeletal abnormalities, facial dysmorphism, dilated cerebral ventricles, microretrognathia and short neck. These findings and some aspects of the neonatal course were consistent with the phenotype previously reported for duplication of distal 7q, without associated monosomy for sequences from another chromosome. Copyright © 1999 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/(SICI)1097-0223(199912)19:12<1150::AID-PD733>3.0.CO;2-0</identifier><identifier>PMID: 10590434</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Abnormalities, Multiple - diagnostic imaging ; Abnormalities, Multiple - genetics ; Adult ; Biological and medical sciences ; Chromosome Aberrations - diagnosis ; Chromosome Aberrations - diagnostic imaging ; Chromosome Deletion ; Chromosome Disorders ; Chromosome Inversion ; Chromosomes, Human, Pair 7 ; Diagnosis, Differential ; duplication 7q ; Female ; Fetal Diseases - diagnosis ; Fetal Diseases - diagnostic imaging ; Fetal Diseases - genetics ; Gene Duplication ; Genetic Counseling ; Gynecology. Andrology. Obstetrics ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Male ; Management. Prenatal diagnosis ; Medical sciences ; partial trisomy 7q ; pericentric inversion ; Phenotype ; Pregnancy ; Pregnancy. Fetus. 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Diagn</addtitle><description>We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3‐qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defined by fluorescence in situ hybridization (FISH) analysis using a series of locus‐specific and subtelomeric probes. To our knowledge, only three cases involving a recombinant 7 with duplication of 7q have been reported, two of these being first cousins. The clinical findings in our patient included skeletal abnormalities, facial dysmorphism, dilated cerebral ventricles, microretrognathia and short neck. These findings and some aspects of the neonatal course were consistent with the phenotype previously reported for duplication of distal 7q, without associated monosomy for sequences from another chromosome. Copyright © 1999 John Wiley & Sons, Ltd.</description><subject>Abnormalities, Multiple - diagnostic imaging</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Chromosome Aberrations - diagnosis</subject><subject>Chromosome Aberrations - diagnostic imaging</subject><subject>Chromosome Deletion</subject><subject>Chromosome Disorders</subject><subject>Chromosome Inversion</subject><subject>Chromosomes, Human, Pair 7</subject><subject>Diagnosis, Differential</subject><subject>duplication 7q</subject><subject>Female</subject><subject>Fetal Diseases - diagnosis</subject><subject>Fetal Diseases - diagnostic imaging</subject><subject>Fetal Diseases - genetics</subject><subject>Gene Duplication</subject><subject>Genetic Counseling</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>partial trisomy 7q</subject><subject>pericentric inversion</subject><subject>Phenotype</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>recombinant chromosome</subject><subject>Ultrasonography, Prenatal</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkV2LEzEYhQdR3HX1L8hciLQXU_MxH00VZdvVtbJaoQsVb14ymaQbTTPTZGot-OPNOGUVFLzJ-yacPBzOiaJXGI0wQuTZYDmfzYcYsSJBhNABZoxhMsRsgskLjDM0mZzPL5KPFwWlL-kIjWaL5yRBd6LT2z93o1OEw07HGT6JHnj_JYDHhBX3oxOMMoZSmp5GP97XRoqd4S4Wh7ZeSytbLWJuuTl47cNSxcJoqwU3sdK20nbtY21jHlu5L2tn471ub-LGSctbbswhrjRf29rLKnZSDIphtWsGxXao7bdwGTSEbCke0WHD24fRPcWNl4-O8yy6fvP6evY2uVpczmfnV4lIaUaTNGdUoJJyKphSQiiWkxIhrEIOpaIpkSRXqRKcpLykWHGKyjErVV4iludjehY97bGNq7c76VvYaC-kMdzKeuch4FNaZCgIV71QuNp7JxU0Tm-4OwBG0PUC0PUCXcbQZQx9L2FAdwY_AKEX-NULUEAwWwCBjvz4aGFXbmT1B7cvIgieHAXch6iV41Zo_1tHAnucBdmnXrbXRh7-svdfd_8y1z8EdNKjtW_l91s0d18hL0I8sPpwCcvpdLpafl7BO_oT8SHD8w</recordid><startdate>199912</startdate><enddate>199912</enddate><creator>Goodman, Barbara K.</creator><creator>Stone, Kristyne</creator><creator>Coddett, Jomo M.</creator><creator>Cargile, Colyn B.</creator><creator>Gurewitsch, Edith D.</creator><creator>Blakemore, Karin J.</creator><creator>Stetten, Gail</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</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>199912</creationdate><title>Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat</title><author>Goodman, Barbara K. ; Stone, Kristyne ; Coddett, Jomo M. ; Cargile, Colyn B. ; Gurewitsch, Edith D. ; Blakemore, Karin J. ; Stetten, Gail</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4353-4693c0b3a3c9ffccf962b001f150bf342e26f4fca24ab31fa30b89bf6b096683</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Abnormalities, Multiple - diagnostic imaging</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Chromosome Aberrations - diagnosis</topic><topic>Chromosome Aberrations - diagnostic imaging</topic><topic>Chromosome Deletion</topic><topic>Chromosome Disorders</topic><topic>Chromosome Inversion</topic><topic>Chromosomes, Human, Pair 7</topic><topic>Diagnosis, Differential</topic><topic>duplication 7q</topic><topic>Female</topic><topic>Fetal Diseases - diagnosis</topic><topic>Fetal Diseases - diagnostic imaging</topic><topic>Fetal Diseases - genetics</topic><topic>Gene Duplication</topic><topic>Genetic Counseling</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>partial trisomy 7q</topic><topic>pericentric inversion</topic><topic>Phenotype</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>recombinant chromosome</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Goodman, Barbara K.</creatorcontrib><creatorcontrib>Stone, Kristyne</creatorcontrib><creatorcontrib>Coddett, Jomo M.</creatorcontrib><creatorcontrib>Cargile, Colyn B.</creatorcontrib><creatorcontrib>Gurewitsch, Edith D.</creatorcontrib><creatorcontrib>Blakemore, Karin J.</creatorcontrib><creatorcontrib>Stetten, Gail</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>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Goodman, Barbara K.</au><au>Stone, Kristyne</au><au>Coddett, Jomo M.</au><au>Cargile, Colyn B.</au><au>Gurewitsch, Edith D.</au><au>Blakemore, Karin J.</au><au>Stetten, Gail</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>1999-12</date><risdate>1999</risdate><volume>19</volume><issue>12</issue><spage>1150</spage><epage>1156</epage><pages>1150-1156</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3‐qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defined by fluorescence in situ hybridization (FISH) analysis using a series of locus‐specific and subtelomeric probes. To our knowledge, only three cases involving a recombinant 7 with duplication of 7q have been reported, two of these being first cousins. The clinical findings in our patient included skeletal abnormalities, facial dysmorphism, dilated cerebral ventricles, microretrognathia and short neck. These findings and some aspects of the neonatal course were consistent with the phenotype previously reported for duplication of distal 7q, without associated monosomy for sequences from another chromosome. Copyright © 1999 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>10590434</pmid><doi>10.1002/(SICI)1097-0223(199912)19:12<1150::AID-PD733>3.0.CO;2-0</doi><tpages>7</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Adult Biological and medical sciences Chromosome Aberrations - diagnosis Chromosome Aberrations - diagnostic imaging Chromosome Deletion Chromosome Disorders Chromosome Inversion Chromosomes, Human, Pair 7 Diagnosis, Differential duplication 7q Female Fetal Diseases - diagnosis Fetal Diseases - diagnostic imaging Fetal Diseases - genetics Gene Duplication Genetic Counseling Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Infant, Newborn Male Management. Prenatal diagnosis Medical sciences partial trisomy 7q pericentric inversion Phenotype Pregnancy Pregnancy. Fetus. Placenta recombinant chromosome Ultrasonography, Prenatal |
| title | Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat |
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