Two patients with ring chromosome 15 syndrome
We report on 2 patients (3½ year‐old‐male and 6‐year‐old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hyperte...
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| Veröffentlicht in: | American journal of medical genetics 1988-01, Vol.29 (1), p.149-154 |
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| container_title | American journal of medical genetics |
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| creator | Butler, Merlin G. Fogo, Agnes B. Fuchs, David A. Collins, Francis S. Dev, Viathilingam G. Phillips III, John A. Optiz, John M. Reynolds, James F. |
| description | We report on 2 patients (3½ year‐old‐male and 6‐year‐old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café‐au‐lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and parental age at the time of birth was 28 and 31 years, respectively. |
| doi_str_mv | 10.1002/ajmg.1320290119 |
| format | Article |
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The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café‐au‐lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and parental age at the time of birth was 28 and 31 years, respectively.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320290119</identifier><identifier>PMID: 3278612</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; brachydactyly ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosomes, Human, Pair 15 ; Female ; Growth Disorders - genetics ; Humans ; hypertelorism ; Intellectual Disability - genetics ; Male ; mental retardation ; microcephaly ; Microcephaly - genetics ; r chromosome ; Ring Chromosomes ; short stature ; speech delay ; Speech Disorders - genetics ; Syndrome ; triangular facies</subject><ispartof>American journal of medical genetics, 1988-01, Vol.29 (1), p.149-154</ispartof><rights>Copyright © 1988 Wiley‐Liss, Inc., A Wiley Company</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c2709-c671d1b7f8ab0b94cb8abb369252b646e9ba214ced2dfcf50b793cc418e186bc3</citedby><cites>FETCH-LOGICAL-c2709-c671d1b7f8ab0b94cb8abb369252b646e9ba214ced2dfcf50b793cc418e186bc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3278612$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Butler, Merlin G.</creatorcontrib><creatorcontrib>Fogo, Agnes B.</creatorcontrib><creatorcontrib>Fuchs, David A.</creatorcontrib><creatorcontrib>Collins, Francis S.</creatorcontrib><creatorcontrib>Dev, Viathilingam G.</creatorcontrib><creatorcontrib>Phillips III, John A.</creatorcontrib><creatorcontrib>Optiz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><title>Two patients with ring chromosome 15 syndrome</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report on 2 patients (3½ year‐old‐male and 6‐year‐old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café‐au‐lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and parental age at the time of birth was 28 and 31 years, respectively.</description><subject>Abnormalities, Multiple - genetics</subject><subject>brachydactyly</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes, Human, Pair 15</subject><subject>Female</subject><subject>Growth Disorders - genetics</subject><subject>Humans</subject><subject>hypertelorism</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>mental retardation</subject><subject>microcephaly</subject><subject>Microcephaly - genetics</subject><subject>r chromosome</subject><subject>Ring Chromosomes</subject><subject>short stature</subject><subject>speech delay</subject><subject>Speech Disorders - genetics</subject><subject>Syndrome</subject><subject>triangular facies</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1PwkAQhjdGg4iePZn05K2ws9vuRzwhUdQAXjAmXjbd7RaK_cBuCfLvLSnBePI0M5nnfQ4vQteA-4AxGUSrfNEHSjCRGECeoC5gyXzBiDhFXQyB8DmR8hxdOLfCDRII0kEdSrhgQLrIn29Lbx3VqS1q523TeulVabHwzLIq89KVufUg9NyuiJvbXqKzJMqcvTrMHnp7fJiPnvzJ6_h5NJz4hnAsfcM4xKB5IiKNtQyMbhZNmSQh0SxgVuqIQGBsTOLEJCHWXFJjAhAWBNOG9tBt611X5dfGulrlqTM2y6LClhunuACKMecNOGhBU5XOVTZR6yrNo2qnAKt9QWpfkPotqEncHNQbndv4yB8aaf537X-bZnb3n04NX6bjP3a_Taeutt_HdFR9KsYpD9X7bKxGwexD3sNUSfoDQtyBEA</recordid><startdate>198801</startdate><enddate>198801</enddate><creator>Butler, Merlin G.</creator><creator>Fogo, Agnes B.</creator><creator>Fuchs, David A.</creator><creator>Collins, Francis S.</creator><creator>Dev, Viathilingam G.</creator><creator>Phillips III, John A.</creator><creator>Optiz, John M.</creator><creator>Reynolds, James F.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</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>198801</creationdate><title>Two patients with ring chromosome 15 syndrome</title><author>Butler, Merlin G. ; Fogo, Agnes B. ; Fuchs, David A. ; Collins, Francis S. ; Dev, Viathilingam G. ; Phillips III, John A. ; Optiz, John M. ; Reynolds, James F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2709-c671d1b7f8ab0b94cb8abb369252b646e9ba214ced2dfcf50b793cc418e186bc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1988</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>brachydactyly</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes, Human, Pair 15</topic><topic>Female</topic><topic>Growth Disorders - genetics</topic><topic>Humans</topic><topic>hypertelorism</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>mental retardation</topic><topic>microcephaly</topic><topic>Microcephaly - genetics</topic><topic>r chromosome</topic><topic>Ring Chromosomes</topic><topic>short stature</topic><topic>speech delay</topic><topic>Speech Disorders - genetics</topic><topic>Syndrome</topic><topic>triangular facies</topic><toplevel>online_resources</toplevel><creatorcontrib>Butler, Merlin G.</creatorcontrib><creatorcontrib>Fogo, Agnes B.</creatorcontrib><creatorcontrib>Fuchs, David A.</creatorcontrib><creatorcontrib>Collins, Francis S.</creatorcontrib><creatorcontrib>Dev, Viathilingam G.</creatorcontrib><creatorcontrib>Phillips III, John A.</creatorcontrib><creatorcontrib>Optiz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</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>Butler, Merlin G.</au><au>Fogo, Agnes B.</au><au>Fuchs, David A.</au><au>Collins, Francis S.</au><au>Dev, Viathilingam G.</au><au>Phillips III, John A.</au><au>Optiz, John M.</au><au>Reynolds, James F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two patients with ring chromosome 15 syndrome</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1988-01</date><risdate>1988</risdate><volume>29</volume><issue>1</issue><spage>149</spage><epage>154</epage><pages>149-154</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><abstract>We report on 2 patients (3½ year‐old‐male and 6‐year‐old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café‐au‐lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. 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| fulltext | fulltext |
| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1988-01, Vol.29 (1), p.149-154 |
| issn | 0148-7299 1096-8628 |
| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple - genetics brachydactyly Child Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 15 Female Growth Disorders - genetics Humans hypertelorism Intellectual Disability - genetics Male mental retardation microcephaly Microcephaly - genetics r chromosome Ring Chromosomes short stature speech delay Speech Disorders - genetics Syndrome triangular facies |
| title | Two patients with ring chromosome 15 syndrome |
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