Major feeding difficulties in the first reported case of interstitial 20q11.22‐q12 microdeletion and molecular cytogenetic characterization
We report on a 4‐year‐old female presenting with intrauterine growth retardation, facial dysmorphic features, major feeding difficulties with severe diarrhea and vomiting, mental retardation with abnormal behavior and hypertonia. Feeding difficulties were the most invalidating features with absent o...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2006-09, Vol.140A (17), p.1859-1863 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Callier, P. Faivre, L. Marle, N. Thauvin‐Robinet, C. Sanlaville, D. Gosset, P. Prieur, M. Labenne, M. Huet, F. Mugneret, F. |
| description | We report on a 4‐year‐old female presenting with intrauterine growth retardation, facial dysmorphic features, major feeding difficulties with severe diarrhea and vomiting, mental retardation with abnormal behavior and hypertonia. Feeding difficulties were the most invalidating features with absent oral intake requiring persistent enteral feeding. Standard cytogenetic studies were normal, but high‐resolution chromosome analyses revealed a small de novo interstitial deletion of the long arm of chromosome 20, 46,XX,del(20)(q11.21q12). The deletion was confirmed using metaphase comparative genomic hybridization (CGH) and multicolor high resolution banding (mBAND). The deletion breakpoints were characterized using FISH analyses with YACs, PACs, and BACs clones located in the deleted and adjacent regions. A 6.6‐Mb deleted region between markers D20S815 (20q11.22) and D20S435 (20q12) could be delineated. None of the nine previously reported cases with interstitial 20q deletion found in the literature involve the same breakpoints. This report further emphasizes the indication of high‐resolution chromosome analyses in children with syndromic mental retardation. The description of additional cases would be useful in order to better characterize the phenotype of patients with proximal interstitial 20q deletion. © 2006 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.31395 |
| format | Article |
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Feeding difficulties were the most invalidating features with absent oral intake requiring persistent enteral feeding. Standard cytogenetic studies were normal, but high‐resolution chromosome analyses revealed a small de novo interstitial deletion of the long arm of chromosome 20, 46,XX,del(20)(q11.21q12). The deletion was confirmed using metaphase comparative genomic hybridization (CGH) and multicolor high resolution banding (mBAND). The deletion breakpoints were characterized using FISH analyses with YACs, PACs, and BACs clones located in the deleted and adjacent regions. A 6.6‐Mb deleted region between markers D20S815 (20q11.22) and D20S435 (20q12) could be delineated. None of the nine previously reported cases with interstitial 20q deletion found in the literature involve the same breakpoints. This report further emphasizes the indication of high‐resolution chromosome analyses in children with syndromic mental retardation. The description of additional cases would be useful in order to better characterize the phenotype of patients with proximal interstitial 20q deletion. © 2006 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.31395</identifier><identifier>PMID: 16892304</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - diagnosis ; Abnormalities, Multiple - genetics ; Biological and medical sciences ; Child, Preschool ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 20 ; Cytogenetic Analysis ; Facies ; Feeding and Eating Disorders - diagnosis ; Feeding and Eating Disorders - genetics ; feeding difficulties ; Female ; Follow-Up Studies ; high‐resolution cytogenetic studies ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Intellectual Disability - diagnosis ; interstitial deletion of chromosome 20q11.22‐q12 ; Karyotyping ; Medical genetics ; Medical sciences ; molecular cytogenetic characterization</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am J Med Genet A</addtitle><description>We report on a 4‐year‐old female presenting with intrauterine growth retardation, facial dysmorphic features, major feeding difficulties with severe diarrhea and vomiting, mental retardation with abnormal behavior and hypertonia. Feeding difficulties were the most invalidating features with absent oral intake requiring persistent enteral feeding. Standard cytogenetic studies were normal, but high‐resolution chromosome analyses revealed a small de novo interstitial deletion of the long arm of chromosome 20, 46,XX,del(20)(q11.21q12). The deletion was confirmed using metaphase comparative genomic hybridization (CGH) and multicolor high resolution banding (mBAND). The deletion breakpoints were characterized using FISH analyses with YACs, PACs, and BACs clones located in the deleted and adjacent regions. A 6.6‐Mb deleted region between markers D20S815 (20q11.22) and D20S435 (20q12) could be delineated. None of the nine previously reported cases with interstitial 20q deletion found in the literature involve the same breakpoints. This report further emphasizes the indication of high‐resolution chromosome analyses in children with syndromic mental retardation. The description of additional cases would be useful in order to better characterize the phenotype of patients with proximal interstitial 20q deletion. © 2006 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Chromosome Banding</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 20</subject><subject>Cytogenetic Analysis</subject><subject>Facies</subject><subject>Feeding and Eating Disorders - diagnosis</subject><subject>Feeding and Eating Disorders - genetics</subject><subject>feeding difficulties</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>high‐resolution cytogenetic studies</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>Intellectual Disability - diagnosis</subject><subject>interstitial deletion of chromosome 20q11.22‐q12</subject><subject>Karyotyping</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>molecular cytogenetic characterization</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0c9uEzEQBvAVAtFSuHFGvsCJBP9f77GqoIBacYHzatYep45214ntCIUTL4DEM_IkOCSiNzh5pPnpG1lf0zxndMko5W9gPa2WsBRMdOpBc86U4gtphHj4d-bqrHmS85pSQVWrHzdnTJuOCyrPmx-3sI6JeEQX5hVxwftgd2MJmEmYSblD4kPKhSTcxFTQEQsZSfR1W7AuQgkwEk63jC05__X955ZxMgWbosMRS4gzgdmRKY5YcyERuy9xhXNdWWLvIIGtOeEbHOjT5pGHMeOz03vRfHn39vPV-8XNp-sPV5c3Cys1VQtvYGg7ACXAWWOdkExIOVANWnbaaQkSrRTGweBbgUa7zrat7Dgw1HZw4qJ5dczdpLjdYS79FLLFcYQZ4y732rRGKWH-CzntODOKVvj6COvHc07o-00KE6R9z2h_6Kk_9NRD_6enyl-ccnfDhO4en4qp4OUJQLYw-gSzDfneGdp2TPHqxNF9DSPu_3m0v_x4e308_xvFP68i</recordid><startdate>20060901</startdate><enddate>20060901</enddate><creator>Callier, P.</creator><creator>Faivre, L.</creator><creator>Marle, N.</creator><creator>Thauvin‐Robinet, C.</creator><creator>Sanlaville, D.</creator><creator>Gosset, P.</creator><creator>Prieur, M.</creator><creator>Labenne, M.</creator><creator>Huet, F.</creator><creator>Mugneret, F.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20060901</creationdate><title>Major feeding difficulties in the first reported case of interstitial 20q11.22‐q12 microdeletion and molecular cytogenetic characterization</title><author>Callier, P. ; Faivre, L. ; Marle, N. ; Thauvin‐Robinet, C. ; Sanlaville, D. ; Gosset, P. ; Prieur, M. ; Labenne, M. ; Huet, F. ; Mugneret, F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4605-f8ab79aa53adc8cd341344b06a6496d64a4ec438dabf73e86d9c77492a1e6cbd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>Chromosome Banding</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 20</topic><topic>Cytogenetic Analysis</topic><topic>Facies</topic><topic>Feeding and Eating Disorders - diagnosis</topic><topic>Feeding and Eating Disorders - genetics</topic><topic>feeding difficulties</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>high‐resolution cytogenetic studies</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant</topic><topic>Intellectual Disability - diagnosis</topic><topic>interstitial deletion of chromosome 20q11.22‐q12</topic><topic>Karyotyping</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>molecular cytogenetic characterization</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Callier, P.</creatorcontrib><creatorcontrib>Faivre, L.</creatorcontrib><creatorcontrib>Marle, N.</creatorcontrib><creatorcontrib>Thauvin‐Robinet, C.</creatorcontrib><creatorcontrib>Sanlaville, D.</creatorcontrib><creatorcontrib>Gosset, P.</creatorcontrib><creatorcontrib>Prieur, M.</creatorcontrib><creatorcontrib>Labenne, M.</creatorcontrib><creatorcontrib>Huet, F.</creatorcontrib><creatorcontrib>Mugneret, F.</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. 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Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2006-09-01</date><risdate>2006</risdate><volume>140A</volume><issue>17</issue><spage>1859</spage><epage>1863</epage><pages>1859-1863</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>We report on a 4‐year‐old female presenting with intrauterine growth retardation, facial dysmorphic features, major feeding difficulties with severe diarrhea and vomiting, mental retardation with abnormal behavior and hypertonia. Feeding difficulties were the most invalidating features with absent oral intake requiring persistent enteral feeding. Standard cytogenetic studies were normal, but high‐resolution chromosome analyses revealed a small de novo interstitial deletion of the long arm of chromosome 20, 46,XX,del(20)(q11.21q12). The deletion was confirmed using metaphase comparative genomic hybridization (CGH) and multicolor high resolution banding (mBAND). The deletion breakpoints were characterized using FISH analyses with YACs, PACs, and BACs clones located in the deleted and adjacent regions. A 6.6‐Mb deleted region between markers D20S815 (20q11.22) and D20S435 (20q12) could be delineated. None of the nine previously reported cases with interstitial 20q deletion found in the literature involve the same breakpoints. This report further emphasizes the indication of high‐resolution chromosome analyses in children with syndromic mental retardation. The description of additional cases would be useful in order to better characterize the phenotype of patients with proximal interstitial 20q deletion. © 2006 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>16892304</pmid><doi>10.1002/ajmg.a.31395</doi><tpages>5</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Biological and medical sciences Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 20 Cytogenetic Analysis Facies Feeding and Eating Disorders - diagnosis Feeding and Eating Disorders - genetics feeding difficulties Female Follow-Up Studies high‐resolution cytogenetic studies Humans In Situ Hybridization, Fluorescence Infant Intellectual Disability - diagnosis interstitial deletion of chromosome 20q11.22‐q12 Karyotyping Medical genetics Medical sciences molecular cytogenetic characterization |
| title | Major feeding difficulties in the first reported case of interstitial 20q11.22‐q12 microdeletion and molecular cytogenetic characterization |
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