Clinical manifestations in trisomy 9 mosaicism
Pejcic L, Stankovic T, Ratkovic-Jankovic M, Vasic K, Nikolic I. Clinical manifestations in trisomy 9 mosaicism. Turk J Pediatr 2018; 60: 729- 734. Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic or nonmosaic state with similar clinical features. The authors present a male with...
Gespeichert in:
| Veröffentlicht in: | Turkish journal of pediatrics 2018-11, Vol.60 (6), p.729-734 |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 734 |
|---|---|
| container_issue | 6 |
| container_start_page | 729 |
| container_title | Turkish journal of pediatrics |
| container_volume | 60 |
| creator | Pejcic, Ljiljana Stankovic, Tatijana Ratkovic-Jankovic, Marija Vasic, Karin Nikolic, Ivana |
| description | Pejcic L, Stankovic T, Ratkovic-Jankovic M, Vasic K, Nikolic I. Clinical manifestations in trisomy 9 mosaicism. Turk J Pediatr 2018; 60: 729- 734. Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic or nonmosaic state with similar clinical features. The authors present a male with mosaic trisomy 9 from birth to 6 months of life. Clinical manifestations included growth retardation, facial dysmorphism with marked hemi facial hypoplasia and facial asymmetry, single palmar flexion crease, retro calcaneovalgus feet, atrial septal defect, undescended testes and hypospadia. He had several episodes of seizures and ultrasound examination described severe ventriculomegaly, with poorly differentiated parenchyme. These findings are compared to the other previously described cases of trisomy 9 mosaicism through a review of literature. |
| doi_str_mv | 10.24953/turkjped.2018.06.015 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_journals_2293940973</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2293940973</sourcerecordid><originalsourceid>FETCH-LOGICAL-c351t-1b9a6d04506f45660a5d53e1728516e8d5ca226fa0751d66e2430b0a37dfae643</originalsourceid><addsrcrecordid>eNo1kM1OwzAQhC0EoqXwCKBInBN2_bOpj6iigFSJC5wtN3EklyYpdnLo22Noc9rDzszOfozdIxRcaiWehjF87w6uLjjgsgAqANUFm_NSY06S4yWbA0jMpQCcsZsYdwC8BF1es5lAQYojzlmx2vvOV3aftbbzjYuDHXzfxcx32RB87NtjprO2j9ZXPra37Kqx--juznPBvtYvn6u3fPPx-r563uSVUDjkuNWWapAKqJGKCKyqlXBY8qVCcstaVZZzaiyUCmsix1PLLVhR1o11JMWCPZ5yD6H_GVMrs-vH0KWThnMttEx_iKRSJ1UV-hiDa8wh-NaGo0Ew_5TMRMn8UTJAJlFKvodz-rht025yTVjELzX_Y6M</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2293940973</pqid></control><display><type>article</type><title>Clinical manifestations in trisomy 9 mosaicism</title><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><creator>Pejcic, Ljiljana ; Stankovic, Tatijana ; Ratkovic-Jankovic, Marija ; Vasic, Karin ; Nikolic, Ivana</creator><creatorcontrib>Pejcic, Ljiljana ; Stankovic, Tatijana ; Ratkovic-Jankovic, Marija ; Vasic, Karin ; Nikolic, Ivana</creatorcontrib><description>Pejcic L, Stankovic T, Ratkovic-Jankovic M, Vasic K, Nikolic I. Clinical manifestations in trisomy 9 mosaicism. Turk J Pediatr 2018; 60: 729- 734. Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic or nonmosaic state with similar clinical features. The authors present a male with mosaic trisomy 9 from birth to 6 months of life. Clinical manifestations included growth retardation, facial dysmorphism with marked hemi facial hypoplasia and facial asymmetry, single palmar flexion crease, retro calcaneovalgus feet, atrial septal defect, undescended testes and hypospadia. He had several episodes of seizures and ultrasound examination described severe ventriculomegaly, with poorly differentiated parenchyme. These findings are compared to the other previously described cases of trisomy 9 mosaicism through a review of literature.</description><identifier>ISSN: 0041-4301</identifier><identifier>EISSN: 2791-6421</identifier><identifier>DOI: 10.24953/turkjped.2018.06.015</identifier><identifier>PMID: 31365211</identifier><language>eng</language><publisher>Turkey: Hacettepe University Faculty of Medicine</publisher><subject>Asymmetry ; Blood ; Cesarean section ; Congenital diseases ; Convulsions & seizures ; Defects ; Ears & hearing ; Genetic counseling ; Patients ; Ultrasonic imaging ; Urogenital system</subject><ispartof>Turkish journal of pediatrics, 2018-11, Vol.60 (6), p.729-734</ispartof><rights>Copyright Hacettepe University Faculty of Medicine Nov/Dec 2018</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c351t-1b9a6d04506f45660a5d53e1728516e8d5ca226fa0751d66e2430b0a37dfae643</citedby></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/31365211$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Pejcic, Ljiljana</creatorcontrib><creatorcontrib>Stankovic, Tatijana</creatorcontrib><creatorcontrib>Ratkovic-Jankovic, Marija</creatorcontrib><creatorcontrib>Vasic, Karin</creatorcontrib><creatorcontrib>Nikolic, Ivana</creatorcontrib><title>Clinical manifestations in trisomy 9 mosaicism</title><title>Turkish journal of pediatrics</title><addtitle>Turk J Pediatr</addtitle><description>Pejcic L, Stankovic T, Ratkovic-Jankovic M, Vasic K, Nikolic I. Clinical manifestations in trisomy 9 mosaicism. Turk J Pediatr 2018; 60: 729- 734. Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic or nonmosaic state with similar clinical features. The authors present a male with mosaic trisomy 9 from birth to 6 months of life. Clinical manifestations included growth retardation, facial dysmorphism with marked hemi facial hypoplasia and facial asymmetry, single palmar flexion crease, retro calcaneovalgus feet, atrial septal defect, undescended testes and hypospadia. He had several episodes of seizures and ultrasound examination described severe ventriculomegaly, with poorly differentiated parenchyme. These findings are compared to the other previously described cases of trisomy 9 mosaicism through a review of literature.</description><subject>Asymmetry</subject><subject>Blood</subject><subject>Cesarean section</subject><subject>Congenital diseases</subject><subject>Convulsions & seizures</subject><subject>Defects</subject><subject>Ears & hearing</subject><subject>Genetic counseling</subject><subject>Patients</subject><subject>Ultrasonic imaging</subject><subject>Urogenital system</subject><issn>0041-4301</issn><issn>2791-6421</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNo1kM1OwzAQhC0EoqXwCKBInBN2_bOpj6iigFSJC5wtN3EklyYpdnLo22Noc9rDzszOfozdIxRcaiWehjF87w6uLjjgsgAqANUFm_NSY06S4yWbA0jMpQCcsZsYdwC8BF1es5lAQYojzlmx2vvOV3aftbbzjYuDHXzfxcx32RB87NtjprO2j9ZXPra37Kqx--juznPBvtYvn6u3fPPx-r563uSVUDjkuNWWapAKqJGKCKyqlXBY8qVCcstaVZZzaiyUCmsix1PLLVhR1o11JMWCPZ5yD6H_GVMrs-vH0KWThnMttEx_iKRSJ1UV-hiDa8wh-NaGo0Ew_5TMRMn8UTJAJlFKvodz-rht025yTVjELzX_Y6M</recordid><startdate>20181101</startdate><enddate>20181101</enddate><creator>Pejcic, Ljiljana</creator><creator>Stankovic, Tatijana</creator><creator>Ratkovic-Jankovic, Marija</creator><creator>Vasic, Karin</creator><creator>Nikolic, Ivana</creator><general>Hacettepe University Faculty of Medicine</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>4T-</scope><scope>4U-</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>EDSIH</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope></search><sort><creationdate>20181101</creationdate><title>Clinical manifestations in trisomy 9 mosaicism</title><author>Pejcic, Ljiljana ; Stankovic, Tatijana ; Ratkovic-Jankovic, Marija ; Vasic, Karin ; Nikolic, Ivana</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c351t-1b9a6d04506f45660a5d53e1728516e8d5ca226fa0751d66e2430b0a37dfae643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Asymmetry</topic><topic>Blood</topic><topic>Cesarean section</topic><topic>Congenital diseases</topic><topic>Convulsions & seizures</topic><topic>Defects</topic><topic>Ears & hearing</topic><topic>Genetic counseling</topic><topic>Patients</topic><topic>Ultrasonic imaging</topic><topic>Urogenital system</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pejcic, Ljiljana</creatorcontrib><creatorcontrib>Stankovic, Tatijana</creatorcontrib><creatorcontrib>Ratkovic-Jankovic, Marija</creatorcontrib><creatorcontrib>Vasic, Karin</creatorcontrib><creatorcontrib>Nikolic, Ivana</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Docstoc</collection><collection>University Readers</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Turkey Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><jtitle>Turkish journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pejcic, Ljiljana</au><au>Stankovic, Tatijana</au><au>Ratkovic-Jankovic, Marija</au><au>Vasic, Karin</au><au>Nikolic, Ivana</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical manifestations in trisomy 9 mosaicism</atitle><jtitle>Turkish journal of pediatrics</jtitle><addtitle>Turk J Pediatr</addtitle><date>2018-11-01</date><risdate>2018</risdate><volume>60</volume><issue>6</issue><spage>729</spage><epage>734</epage><pages>729-734</pages><issn>0041-4301</issn><eissn>2791-6421</eissn><abstract>Pejcic L, Stankovic T, Ratkovic-Jankovic M, Vasic K, Nikolic I. Clinical manifestations in trisomy 9 mosaicism. Turk J Pediatr 2018; 60: 729- 734. Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic or nonmosaic state with similar clinical features. The authors present a male with mosaic trisomy 9 from birth to 6 months of life. Clinical manifestations included growth retardation, facial dysmorphism with marked hemi facial hypoplasia and facial asymmetry, single palmar flexion crease, retro calcaneovalgus feet, atrial septal defect, undescended testes and hypospadia. He had several episodes of seizures and ultrasound examination described severe ventriculomegaly, with poorly differentiated parenchyme. These findings are compared to the other previously described cases of trisomy 9 mosaicism through a review of literature.</abstract><cop>Turkey</cop><pub>Hacettepe University Faculty of Medicine</pub><pmid>31365211</pmid><doi>10.24953/turkjped.2018.06.015</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0041-4301 |
| ispartof | Turkish journal of pediatrics, 2018-11, Vol.60 (6), p.729-734 |
| issn | 0041-4301 2791-6421 |
| language | eng |
| recordid | cdi_proquest_journals_2293940973 |
| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Asymmetry Blood Cesarean section Congenital diseases Convulsions & seizures Defects Ears & hearing Genetic counseling Patients Ultrasonic imaging Urogenital system |
| title | Clinical manifestations in trisomy 9 mosaicism |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-30T02%3A35%3A45IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Clinical%20manifestations%20in%20trisomy%209%20mosaicism&rft.jtitle=Turkish%20journal%20of%20pediatrics&rft.au=Pejcic,%20Ljiljana&rft.date=2018-11-01&rft.volume=60&rft.issue=6&rft.spage=729&rft.epage=734&rft.pages=729-734&rft.issn=0041-4301&rft.eissn=2791-6421&rft_id=info:doi/10.24953/turkjped.2018.06.015&rft_dat=%3Cproquest_cross%3E2293940973%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2293940973&rft_id=info:pmid/31365211&rfr_iscdi=true |