Evidence map›Paper›PMID 25506395›Full record

ArticleMolecular cytogenetics2014

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.

Magdalini Lagou, Ioannis Papoulidis, Sandro Orru, Vasileios Papadopoulos, George Daskalakis, Maria Kontodiou, Eleftherios Anastasakis, Michael B Petersen, George Kitsos, Loretta Thomaidis and 1 more

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Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Magdalini LagouBioiatriki S.A., Laboratory of Genetics, Athens, Greece.
Ioannis PapoulidisEurogenetica S.A., Laboratory of Genetics, Michalakopoulou 125& Vervainon 14, 11527 Athens, Thessaloniki Greece.
Sandro OrruDepartment of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari, Italy.
Vasileios PapadopoulosDepartment of Obstetrics & Gynecology, University of Patra, Patra, Greece.
George Daskalakis1st Department of Obstetrics & Gynecology, University of Athens, Athens, Greece.
Maria KontodiouEurogenetica S.A., Laboratory of Genetics, Michalakopoulou 125& Vervainon 14, 11527 Athens, Thessaloniki Greece.
Eleftherios AnastasakisDepartment of Gynecology, Naval Hospital of Athens, Athens, Greece.
Michael B PetersenDepartment of Clinical Medicine, The Faculty of Medicine, Aalborg University Hospital, Aalborg, Denmark.
George KitsosDepartment of Ophthalmology, University of Ioannina, Ioannina, Greece.
Loretta ThomaidisDevelopmental Assessment Unit, 2nd Department of Pediatrics, P. & A. Kyriakou Children's Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.
Emmanouil ManolakosEurogenetica S.A., Laboratory of Genetics, Michalakopoulou 125& Vervainon 14, 11527 Athens, Thessaloniki Greece ; Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundProximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies.

resultsWe report on a 3-year-old girl with a rare 2.9 Mb interstitial deletion at 13q12.11 due to a de novo unbalanced t(13;14) translocation. She had mild mental retardation and relatively mild dysmorphic features such as microcephaly, flat nasal bridge, moderate micrognathia and clinodactyly of 5(th) finger. Molecular karyotyping revealed a deletion on the long arm of chromosome 13 as involving sub-bands 13q12.11, a deletion of about 2.9 Mb. DISCUSSION: The clinical application of array-CGH has made it possible to detect submicroscopical genomic rearrangements that are associated with varying phenotypes.The description of more patients with deletions of the 13q12.11 region will allow a more precise genotype-phenotype correlation.

Indexed as

13q12.11Array-CGHDeletionMild dysmorphic features

Identifiers

PMID25506395
PMCPMC4265435

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