Experience with prenatal fragile X detection
We have attempted the prenatal detection of the fra(X) 9 times. Three fra(X) positive fetuses have been diagnosed: 2 males and one female. The diagnosis on the 2 males has been confirmed. The testes of the 2 fra(X) positive fetuses appeared large for gestational age. However, results of anthropometr...
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| Veröffentlicht in: | American journal of medical genetics 1984-01, Vol.17 (1), p.215-239 |
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| container_title | American journal of medical genetics |
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| creator | Jenkins, Edmund C. Brown, W. Ted Brooks, Judith Duncan, Charlotte J. Rudelli, Raul D. Wisniewski, Henry M. Opitz, John M. |
| description | We have attempted the prenatal detection of the fra(X) 9 times. Three fra(X) positive fetuses have been diagnosed: 2 males and one female. The diagnosis on the 2 males has been confirmed. The testes of the 2 fra(X) positive fetuses appeared large for gestational age. However, results of anthropometric, bone age, anatomical and neurohistological studies were normal. Normal outcome was confirmed after birth in 2 males and one female on the basis of whole blood fra(X) studies. A presumptively positive female and a presumptively negative males remain unborn. Further presumptively negative males remain unborn. Further experience is needed to establish the reliability of the prenatal detection of fra(X)(q27). |
| doi_str_mv | 10.1002/ajmg.1320170114 |
| format | Article |
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Further experience is needed to establish the reliability of the prenatal detection of fra(X)(q27).</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320170114</identifier><identifier>PMID: 6711597</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adrenal Cortex - pathology ; Amniotic Fluid - cytology ; amniotic fluid cell culture ; Cells, Cultured ; Chromosome Fragility ; Female ; fetal fra(X) anatomy and neurohistology ; fragile X chromosome ; Fragile X Syndrome - diagnosis ; Fragile X Syndrome - pathology ; Humans ; Karyotyping ; Male ; Neurons - pathology ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Pyramidal Tracts - pathology ; Sex Chromosome Aberrations - diagnosis ; Testis - pathology</subject><ispartof>American journal of medical genetics, 1984-01, Vol.17 (1), p.215-239</ispartof><rights>Copyright © 1984 Wiley‐Liss, Inc., A Wiley Company</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4134-2435356f20b97959f997f1c865a1a35a9f68baf15d0fbd191028b464d08cac193</citedby><cites>FETCH-LOGICAL-c4134-2435356f20b97959f997f1c865a1a35a9f68baf15d0fbd191028b464d08cac193</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/6711597$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jenkins, Edmund C.</creatorcontrib><creatorcontrib>Brown, W. Ted</creatorcontrib><creatorcontrib>Brooks, Judith</creatorcontrib><creatorcontrib>Duncan, Charlotte J.</creatorcontrib><creatorcontrib>Rudelli, Raul D.</creatorcontrib><creatorcontrib>Wisniewski, Henry M.</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><title>Experience with prenatal fragile X detection</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We have attempted the prenatal detection of the fra(X) 9 times. Three fra(X) positive fetuses have been diagnosed: 2 males and one female. The diagnosis on the 2 males has been confirmed. The testes of the 2 fra(X) positive fetuses appeared large for gestational age. However, results of anthropometric, bone age, anatomical and neurohistological studies were normal. Normal outcome was confirmed after birth in 2 males and one female on the basis of whole blood fra(X) studies. A presumptively positive female and a presumptively negative males remain unborn. Further presumptively negative males remain unborn. Further experience is needed to establish the reliability of the prenatal detection of fra(X)(q27).</description><subject>Adrenal Cortex - pathology</subject><subject>Amniotic Fluid - cytology</subject><subject>amniotic fluid cell culture</subject><subject>Cells, Cultured</subject><subject>Chromosome Fragility</subject><subject>Female</subject><subject>fetal fra(X) anatomy and neurohistology</subject><subject>fragile X chromosome</subject><subject>Fragile X Syndrome - diagnosis</subject><subject>Fragile X Syndrome - pathology</subject><subject>Humans</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Neurons - pathology</subject><subject>Pedigree</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Pyramidal Tracts - pathology</subject><subject>Sex Chromosome Aberrations - diagnosis</subject><subject>Testis - pathology</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1984</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtPAjEUhRujQUTXrkxm5cqB3r6mjSskiBrQjUZ3TWemxcHhYTsE-PcOgWhcsbqL851zkw-hS8BtwJh0zGQ6bgMlGBIMwI5QE7ASsRREHqMmBibjhCh1is5CmOAtIkkDNUQCwFXSRDf99cL6ws4yG62K6jNaeDszlSkj5824KG30EeW2sllVzGfn6MSZMtiL_W2ht_v-a-8hHr4MHnvdYZwxoCwmjHLKhSM4VYniyimVOMik4AYM5UY5IVPjgOfYpTkowESmTLAcy8xkoGgLXe92F37-vbSh0tMiZLYszczOl0FLwCAIPwwClVyCxDXY2YGZn4fgrdMLX0yN32jAeitSb0XqP5F142o_vUynNv_l9-bq_HaXr2pJm0Nzuvs0Gvxbj3ftIlR2_ds2_qt-QBOu358H-i5hXLKR0D36A6OKjGw</recordid><startdate>198401</startdate><enddate>198401</enddate><creator>Jenkins, Edmund C.</creator><creator>Brown, W. 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Ted</creatorcontrib><creatorcontrib>Brooks, Judith</creatorcontrib><creatorcontrib>Duncan, Charlotte J.</creatorcontrib><creatorcontrib>Rudelli, Raul D.</creatorcontrib><creatorcontrib>Wisniewski, Henry M.</creatorcontrib><creatorcontrib>Opitz, John M.</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>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</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jenkins, Edmund C.</au><au>Brown, W. Ted</au><au>Brooks, Judith</au><au>Duncan, Charlotte J.</au><au>Rudelli, Raul D.</au><au>Wisniewski, Henry M.</au><au>Opitz, John M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Experience with prenatal fragile X detection</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1984-01</date><risdate>1984</risdate><volume>17</volume><issue>1</issue><spage>215</spage><epage>239</epage><pages>215-239</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><abstract>We have attempted the prenatal detection of the fra(X) 9 times. Three fra(X) positive fetuses have been diagnosed: 2 males and one female. The diagnosis on the 2 males has been confirmed. The testes of the 2 fra(X) positive fetuses appeared large for gestational age. However, results of anthropometric, bone age, anatomical and neurohistological studies were normal. Normal outcome was confirmed after birth in 2 males and one female on the basis of whole blood fra(X) studies. A presumptively positive female and a presumptively negative males remain unborn. Further presumptively negative males remain unborn. Further experience is needed to establish the reliability of the prenatal detection of fra(X)(q27).</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>6711597</pmid><doi>10.1002/ajmg.1320170114</doi><tpages>25</tpages></addata></record> |
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| ispartof | American journal of medical genetics, 1984-01, Vol.17 (1), p.215-239 |
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| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Adrenal Cortex - pathology Amniotic Fluid - cytology amniotic fluid cell culture Cells, Cultured Chromosome Fragility Female fetal fra(X) anatomy and neurohistology fragile X chromosome Fragile X Syndrome - diagnosis Fragile X Syndrome - pathology Humans Karyotyping Male Neurons - pathology Pedigree Pregnancy Prenatal Diagnosis Pyramidal Tracts - pathology Sex Chromosome Aberrations - diagnosis Testis - pathology |
| title | Experience with prenatal fragile X detection |
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