Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.
Identifieur interne : 000944 ( PubMed/Checkpoint ); précédent : 000943; suivant : 000945Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.
Auteurs : Gioconda Manassero-Morales [Pérou] ; Denisse Alvarez-Manassero [Pérou] ; Alfredo Merino-Luna [Pérou]Source :
- Case reports in pediatrics [ 2090-6803 ] ; 2016.
Abstract
Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.
DOI: 10.1155/2016/8760504
PubMed: 27672470
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:27672470Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.</title><author><name sortKey="Manassero Morales, Gioconda" sort="Manassero Morales, Gioconda" uniqKey="Manassero Morales G" first="Gioconda" last="Manassero-Morales">Gioconda Manassero-Morales</name><affiliation wicri:level="1"><nlm:affiliation>Genetics Division, Instituto Nacional de Salud del Niño, San Borja, Peru.</nlm:affiliation><country xml:lang="fr">Pérou</country><wicri:regionArea>Genetics Division, Instituto Nacional de Salud del Niño, San Borja</wicri:regionArea><wicri:noRegion>San Borja</wicri:noRegion></affiliation></author><author><name sortKey="Alvarez Manassero, Denisse" sort="Alvarez Manassero, Denisse" uniqKey="Alvarez Manassero D" first="Denisse" last="Alvarez-Manassero">Denisse Alvarez-Manassero</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.</nlm:affiliation><country xml:lang="fr">Pérou</country><wicri:regionArea>School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima</wicri:regionArea><wicri:noRegion>Lima</wicri:noRegion></affiliation></author><author><name sortKey="Merino Luna, Alfredo" sort="Merino Luna, Alfredo" uniqKey="Merino Luna A" first="Alfredo" last="Merino-Luna">Alfredo Merino-Luna</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.</nlm:affiliation><country xml:lang="fr">Pérou</country><wicri:regionArea>School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima</wicri:regionArea><wicri:noRegion>Lima</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27672470</idno><idno type="pmid">27672470</idno><idno type="doi">10.1155/2016/8760504</idno><idno type="wicri:Area/PubMed/Corpus">000607</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000607</idno><idno type="wicri:Area/PubMed/Curation">000607</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000607</idno><idno type="wicri:Area/PubMed/Checkpoint">000607</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000607</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.</title><author><name sortKey="Manassero Morales, Gioconda" sort="Manassero Morales, Gioconda" uniqKey="Manassero Morales G" first="Gioconda" last="Manassero-Morales">Gioconda Manassero-Morales</name><affiliation wicri:level="1"><nlm:affiliation>Genetics Division, Instituto Nacional de Salud del Niño, San Borja, Peru.</nlm:affiliation><country xml:lang="fr">Pérou</country><wicri:regionArea>Genetics Division, Instituto Nacional de Salud del Niño, San Borja</wicri:regionArea><wicri:noRegion>San Borja</wicri:noRegion></affiliation></author><author><name sortKey="Alvarez Manassero, Denisse" sort="Alvarez Manassero, Denisse" uniqKey="Alvarez Manassero D" first="Denisse" last="Alvarez-Manassero">Denisse Alvarez-Manassero</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.</nlm:affiliation><country xml:lang="fr">Pérou</country><wicri:regionArea>School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima</wicri:regionArea><wicri:noRegion>Lima</wicri:noRegion></affiliation></author><author><name sortKey="Merino Luna, Alfredo" sort="Merino Luna, Alfredo" uniqKey="Merino Luna A" first="Alfredo" last="Merino-Luna">Alfredo Merino-Luna</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.</nlm:affiliation><country xml:lang="fr">Pérou</country><wicri:regionArea>School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima</wicri:regionArea><wicri:noRegion>Lima</wicri:noRegion></affiliation></author></analytic><series><title level="j">Case reports in pediatrics</title><idno type="ISSN">2090-6803</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">27672470</PMID><DateCreated><Year>2016</Year><Month>09</Month><Day>27</Day></DateCreated><DateCompleted><Year>2016</Year><Month>09</Month><Day>27</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">2090-6803</ISSN><JournalIssue CitedMedium="Print"><Volume>2016</Volume><PubDate><Year>2016</Year></PubDate></JournalIssue><Title>Case reports in pediatrics</Title><ISOAbbreviation>Case Rep Pediatr</ISOAbbreviation></Journal><ArticleTitle>Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.</ArticleTitle><Pagination><MedlinePgn>8760504</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1155/2016/8760504</ELocationID><Abstract><AbstractText>Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Manassero-Morales</LastName><ForeName>Gioconda</ForeName><Initials>G</Initials><Identifier Source="ORCID">0000-0002-0466-8548</Identifier><AffiliationInfo><Affiliation>Genetics Division, Instituto Nacional de Salud del Niño, San Borja, Peru.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Alvarez-Manassero</LastName><ForeName>Denisse</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Merino-Luna</LastName><ForeName>Alfredo</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>09</Month><Day>08</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Case Rep Pediatr</MedlineTA><NlmUniqueID>101581030</NlmUniqueID></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Ment Defic. 1975 May;79(6):644-7</RefSource><PMID Version="1">125038</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 1981 Apr;18(2):148-51</RefSource><PMID Version="1">6453997</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Prenat Diagn. 2013 Jun;33(6):569-74</RefSource><PMID Version="1">23592485</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Dis Child. 1981 Dec;56(12):962-3</RefSource><PMID Version="1">6460476</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 1994 Oct;31(10):807-10</RefSource><PMID Version="1">7837259</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Assoc Thai. 1995 Feb;78(2):108-12</RefSource><PMID Version="1">7629445</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Korean J Lab Med. 2010 Apr;30(2):195-200</RefSource><PMID Version="1">20445340</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 1972 Jun;9(2):242-4</RefSource><PMID Version="1">4261629</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Genet. 2001 Apr-Jun;44(2):67-70</RefSource><PMID Version="1">11522243</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genet Couns. 2005;16(4):393-402</RefSource><PMID Version="1">16440882</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Dis Child. 1975 Sep;129(9):1062-5</RefSource><PMID Version="1">127528</PMID></CommentsCorrections></CommentsCorrectionsList><OtherID Source="NLM">PMC5031876</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>07</Month><Day>02</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>08</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>9</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>9</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>9</Month><Day>28</Day><Hour>6</Hour><Minute>1</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27672470</ArticleId><ArticleId IdType="doi">10.1155/2016/8760504</ArticleId><ArticleId IdType="pmc">PMC5031876</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Pérou</li></country></list><tree><country name="Pérou"><noRegion><name sortKey="Manassero Morales, Gioconda" sort="Manassero Morales, Gioconda" uniqKey="Manassero Morales G" first="Gioconda" last="Manassero-Morales">Gioconda Manassero-Morales</name></noRegion><name sortKey="Alvarez Manassero, Denisse" sort="Alvarez Manassero, Denisse" uniqKey="Alvarez Manassero D" first="Denisse" last="Alvarez-Manassero">Denisse Alvarez-Manassero</name><name sortKey="Merino Luna, Alfredo" sort="Merino Luna, Alfredo" uniqKey="Merino Luna A" first="Alfredo" last="Merino-Luna">Alfredo Merino-Luna</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000944 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 000944 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= PubMed
|étape= Checkpoint
|type= RBID
|clé= pubmed:27672470
|texte= Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:27672470" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |