Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
We present a 56‐year‐old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09 Mb deletion of chromosome 8q24.11q24.13 containing...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2010-06, Vol.152A (6), p.1545-1549 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Solomon, Benjamin D. Lange, Eileen Shubrook, Jay Service, F. John Herman, Gail Karne, Rajaram J. Gorden, Phillip Muenke, Maximilian Stratakis, Constantine A. |
| description | We present a 56‐year‐old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09 Mb deletion of chromosome 8q24.11q24.13 containing more than 39 genes, as well as a duplication of 20q11.23 containing one gene. The deleted region overlaps that of two previously reported patients, who share a subset of clinical characteristics with the patient described here. Some of this patient's clinical features are consistent with the loss of genes in the deleted region. The diagnostic work‐up of this patient clearly demonstrates the evolution of genetic testing techniques. Published 2010 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.33395 |
| format | Article |
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The diagnostic work‐up of this patient clearly demonstrates the evolution of genetic testing techniques. Published 2010 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.33395</identifier><identifier>PMID: 20503333</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>8q;8q24 ; Adult ; Biological and medical sciences ; Chromosome Deletion ; Chromosomes, Human, Pair 8 - genetics ; Classical genetics, quantitative genetics, hybrids ; Developmental Disabilities - diagnosis ; Developmental Disabilities - genetics ; Face - abnormalities ; Female ; Fundamental and applied biological sciences. Psychology ; Genetics of eukaryotes. Biological and molecular evolution ; Human ; Humans ; Hypesthesia - diagnosis ; Hypesthesia - genetics ; Hypoglycemia - diagnosis ; Hypoglycemia - genetics ; Lymphedema - diagnosis ; Lymphedema - genetics ; Medical genetics ; Medical sciences ; microdeletion ; Middle Aged ; Syndrome</subject><ispartof>American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1545-1549</ispartof><rights>This article is a US Government work and, as such, is in the public domain in the United States of America. 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The deleted region overlaps that of two previously reported patients, who share a subset of clinical characteristics with the patient described here. Some of this patient's clinical features are consistent with the loss of genes in the deleted region. The diagnostic work‐up of this patient clearly demonstrates the evolution of genetic testing techniques. Published 2010 Wiley‐Liss, Inc.</description><subject>8q;8q24</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 8 - genetics</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Developmental Disabilities - diagnosis</subject><subject>Developmental Disabilities - genetics</subject><subject>Face - abnormalities</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Human</subject><subject>Humans</subject><subject>Hypesthesia - diagnosis</subject><subject>Hypesthesia - genetics</subject><subject>Hypoglycemia - diagnosis</subject><subject>Hypoglycemia - genetics</subject><subject>Lymphedema - diagnosis</subject><subject>Lymphedema - genetics</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>microdeletion</subject><subject>Middle Aged</subject><subject>Syndrome</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc1v1DAQxSMEoh9w44x8Qb3sLv6IE-eCVJW2UBVxgbM1cSa7Lk6c2kmr_Pd4u8sCl0qWxtb85r2xXpa9Y3TFKOUf4a5br2AlhKjki-yYScmXuRLi5eHO5VF2EuMdpYLKsnidHXEqaRoQx5n9jA5H63viW6LueU5sTyCdZnIjebTjhnTWNaSZY-fDsLGGtAjjFDAuSIMP6PzQYT-CSy8H8yINN-QXjn5M6GYe_NrNBjsLb7JXLbiIb_f1NPt5dfnj4svy9vv114vz26XJVSWXhWxrzEtOyzZ9iJUVr0SrMG9AGGTM1DWrawqqAVOImpcoBRU1a4VqikKhEafZp53uMNUdNiYtF8DpIdgOwqw9WP1_p7cbvfYPmlcsF4wmgbO9QPD3E8ZRdzYadA569FPUpcylZDSXiVzsSBN8jAHbgwujehuO3oajQT-Fk_D3_252gP-kkYAPewCiAdcG6I2NfzmumCrVlhM77tE6nJ811ec336539r8BTWOqOg</recordid><startdate>201006</startdate><enddate>201006</enddate><creator>Solomon, Benjamin D.</creator><creator>Lange, Eileen</creator><creator>Shubrook, Jay</creator><creator>Service, F. John</creator><creator>Herman, Gail</creator><creator>Karne, Rajaram J.</creator><creator>Gorden, Phillip</creator><creator>Muenke, Maximilian</creator><creator>Stratakis, Constantine A.</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>5PM</scope></search><sort><creationdate>201006</creationdate><title>Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia</title><author>Solomon, Benjamin D. ; Lange, Eileen ; Shubrook, Jay ; Service, F. 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Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2010-06</date><risdate>2010</risdate><volume>152A</volume><issue>6</issue><spage>1545</spage><epage>1549</epage><pages>1545-1549</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>We present a 56‐year‐old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09 Mb deletion of chromosome 8q24.11q24.13 containing more than 39 genes, as well as a duplication of 20q11.23 containing one gene. The deleted region overlaps that of two previously reported patients, who share a subset of clinical characteristics with the patient described here. Some of this patient's clinical features are consistent with the loss of genes in the deleted region. The diagnostic work‐up of this patient clearly demonstrates the evolution of genetic testing techniques. 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| subjects | 8q 8q24 Adult Biological and medical sciences Chromosome Deletion Chromosomes, Human, Pair 8 - genetics Classical genetics, quantitative genetics, hybrids Developmental Disabilities - diagnosis Developmental Disabilities - genetics Face - abnormalities Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Human Humans Hypesthesia - diagnosis Hypesthesia - genetics Hypoglycemia - diagnosis Hypoglycemia - genetics Lymphedema - diagnosis Lymphedema - genetics Medical genetics Medical sciences microdeletion Middle Aged Syndrome |
| title | Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia |
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