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; Emmanouil Manolakos

doi:10.1186/s13039-014-0092-5

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, Emmanouil Manolakos

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Abstract

BACKGROUND: Proximal 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.

RESULTS: We 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.

Original language	English
Article number	92
Journal	Molecular Cytogenetics
Volume	7
Issue number	1
ISSN	1755-8166
DOIs	https://doi.org/10.1186/s13039-014-0092-5
Publication status	Published - 2014

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http://www.molecularcytogenetics.org/content/7/1/92

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Lagou, M., Papoulidis, I., Orru, S., Papadopoulos, V., Daskalakis, G., Kontodiou, M., Anastasakis, E., Petersen, M. B., Kitsos, G., Thomaidis, L., & Manolakos, E. (2014). A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics. Molecular Cytogenetics, 7(1), Article 92. https://doi.org/10.1186/s13039-014-0092-5

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

abstract = "BACKGROUND: Proximal 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.RESULTS: We 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.",

author = "Magdalini Lagou and Ioannis Papoulidis and Sandro Orru and Vasileios Papadopoulos and George Daskalakis and Maria Kontodiou and Eleftherios Anastasakis and Petersen, {Michael B} and George Kitsos and Loretta Thomaidis and Emmanouil Manolakos",

year = "2014",

doi = "10.1186/s13039-014-0092-5",

language = "English",

volume = "7",

journal = "Molecular Cytogenetics",

issn = "1755-8166",

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Lagou, M, Papoulidis, I, Orru, S, Papadopoulos, V, Daskalakis, G, Kontodiou, M, Anastasakis, E, Petersen, MB, Kitsos, G, Thomaidis, L & Manolakos, E 2014, 'A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics', Molecular Cytogenetics, vol. 7, no. 1, 92. https://doi.org/10.1186/s13039-014-0092-5

TY - JOUR

T1 - A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

AU - Lagou, Magdalini

AU - Papoulidis, Ioannis

AU - Orru, Sandro

AU - Papadopoulos, Vasileios

AU - Daskalakis, George

AU - Kontodiou, Maria

AU - Anastasakis, Eleftherios

AU - Petersen, Michael B

AU - Kitsos, George

AU - Thomaidis, Loretta

AU - Manolakos, Emmanouil

PY - 2014

Y1 - 2014

N2 - BACKGROUND: Proximal 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.RESULTS: We 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.

AB - BACKGROUND: Proximal 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.RESULTS: We 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.

U2 - 10.1186/s13039-014-0092-5

DO - 10.1186/s13039-014-0092-5

M3 - Journal article

C2 - 25506395

SN - 1755-8166

VL - 7

JO - Molecular Cytogenetics

JF - Molecular Cytogenetics

IS - 1

M1 - 92

ER -

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

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