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Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience.

Identifieur interne : 000D76 ( PubMed/Checkpoint ); précédent : 000D75; suivant : 000D77

Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience.

Auteurs : Sarar Mohamed ; Edna F. Roche ; Hilary M C V. Hoey

Source :

Journal of pediatric endocrinology & metabolism : JPEM [ 2191-0251 ] ; 2015.

RBID : pubmed:25381945

Descripteurs français

KwdFr :
- Adolescent, Caryotypage, Chromosomes X humains, Diagnostic prénatal, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Irlande, Mosaïcisme, Nourrisson, Nouveau-né, Phénotype, Syndrome de Turner (diagnostic), Syndrome de Turner (génétique), Translocation génétique, Études rétrospectives, Évaluation des symptômes.
MESH :
- diagnostic : Syndrome de Turner.
- génétique : Syndrome de Turner.
- Adolescent, Caryotypage, Chromosomes X humains, Diagnostic prénatal, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Irlande, Mosaïcisme, Nourrisson, Nouveau-né, Phénotype, Translocation génétique, Études rétrospectives, Évaluation des symptômes.

English descriptors

KwdEn :
- Adolescent, Child, Child, Preschool, Chromosomes, Human, X, Female, Humans, Infant, Infant, Newborn, Ireland, Karyotyping, Mosaicism, Phenotype, Prenatal Diagnosis, Retrospective Studies, Symptom Assessment, Translocation, Genetic, Turner Syndrome (diagnosis), Turner Syndrome (genetics).
MESH :
- geographic : Ireland.
- diagnosis : Turner Syndrome.
- genetics : Turner Syndrome.
- Adolescent, Child, Child, Preschool, Chromosomes, Human, X, Female, Humans, Infant, Infant, Newborn, Karyotyping, Mosaicism, Phenotype, Prenatal Diagnosis, Retrospective Studies, Symptom Assessment, Translocation, Genetic.

Abstract

Age at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS.

DOI: 10.1515/jpem-2014-0287
PubMed: 25381945

Affiliations:

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pubmed:25381945

Le document en format XML

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<author><name sortKey="Mohamed, Sarar" sort="Mohamed, Sarar" uniqKey="Mohamed S" first="Sarar" last="Mohamed">Sarar Mohamed</name>
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<author><name sortKey="Roche, Edna F" sort="Roche, Edna F" uniqKey="Roche E" first="Edna F" last="Roche">Edna F. Roche</name>
</author>
<author><name sortKey="Hoey, Hilary M C V" sort="Hoey, Hilary M C V" uniqKey="Hoey H" first="Hilary M C V" last="Hoey">Hilary M C V. Hoey</name>
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<term>Caryotypage</term>
<term>Chromosomes X humains</term>
<term>Diagnostic prénatal</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Humains</term>
<term>Irlande</term>
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<term>Nouveau-né</term>
<term>Phénotype</term>
<term>Syndrome de Turner (diagnostic)</term>
<term>Syndrome de Turner (génétique)</term>
<term>Translocation génétique</term>
<term>Études rétrospectives</term>
<term>Évaluation des symptômes</term>
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<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Ireland</term>
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<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Syndrome de Turner</term>
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<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosomes, Human, X</term>
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<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
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<term>Mosaicism</term>
<term>Phenotype</term>
<term>Prenatal Diagnosis</term>
<term>Retrospective Studies</term>
<term>Symptom Assessment</term>
<term>Translocation, Genetic</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Caryotypage</term>
<term>Chromosomes X humains</term>
<term>Diagnostic prénatal</term>
<term>Enfant</term>
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<front><div type="abstract" xml:lang="en">Age at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS.</div>
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<Month>11</Month>
<Day>13</Day>
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<DateCompleted><Year>2016</Year>
<Month>09</Month>
<Day>09</Day>
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<Month>11</Month>
<Day>13</Day>
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<Issue>11-12</Issue>
<PubDate><Year>2015</Year>
<Month>Nov</Month>
<Day>01</Day>
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<Title>Journal of pediatric endocrinology & metabolism : JPEM</Title>
<ISOAbbreviation>J. Pediatr. Endocrinol. Metab.</ISOAbbreviation>
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<ArticleTitle>Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience.</ArticleTitle>
<Pagination><MedlinePgn>1215-8</MedlinePgn>
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<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Age at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">This was a retrospective evaluation of the clinical and laboratory records of patients with TS.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Sixty-five patients with TS were identified; 40 (62%) were diagnosed after age 5 years. The main presenting features were short stature, delayed puberty, dysmorphic features, and neonatal lymphoedema. Chromosomal analysis of this cohort showed that 31 patients demonstrated mosaicism, while a 45,X karyotype was observed in 19. The remaining patients had variable abnormalities including deletion, translocation, isochromosome, and ring chromosome. Y-chromosome material was found in four cases.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.</AbstractText>
</Abstract>
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<ForeName>Edna F</ForeName>
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<MeshHeading><DescriptorName UI="D063189" MajorTopicYN="N">Symptom Assessment</DescriptorName>
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<MeshHeading><DescriptorName UI="D014178" MajorTopicYN="N">Translocation, Genetic</DescriptorName>
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<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year>
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Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience.

Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki