Intellectual disability

New publication!

6 Oct , 2015 News from Microgenomics

New publication!

We invite you to read an interesting paper recently published on the European Journal of Human Genetics: “9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping“. ABSTRACT: The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of […]

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6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

30 Jun , 2015 News from the world

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

Mol Cytogenet. 2015 Jun 25 Authors Laurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, Laurence Faivre, Marie Eliade, Muriel Payet, Clemence Ragon, Julien Thevenon, Bernard Aral, Sylviane Ragot, Azarnouche Ardalan, Nabila Dhouibi, Candace Bensignor,Christel Thauvin-Robinet, Salima El Chehadeh, and Patrick Callier. Abstract Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS)….read more!

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Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

2 Mar , 2015 News from the world

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

Clinical Genet. 2015 Feb 11 Authors Leroy C, Jacquemont ML, Doray B, Lamblin D, Cormier-Daire V, Philippe A, Nusbaum S, Patrat C, Steffann J, Colleaux L, Vekemans M, Romana S, Turleau C,Malan V. Abstract The Xq25 duplications syndrome has recently emerged as a distinct clinical entity. We report here on six new patients belonging to two unrelated families and harbouring an Xq25 microduplication detected by array CGH. Similarly […]

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Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response.

26 Jan , 2015 News from the world

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response.

Mol Cytogenet. 2014 Dec 19 Authors Fichera M, Barone R, Grillo L, De Grandi M, Fiore V, Morana I, Maniscalchi T, Vinci M, Amata S, Spalletta A, Sorge G, Signorelli SS. Abstract Despite the extensive use of chromosomal microarray technologies in patients with neurodevelopmental disorders has permitted the identification of an increasing number of causative submicroscopic rearrangements throughout the genome, constitutional duplications involving chromosome 1q22 have seldom […]

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Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

2 Dec , 2014 News from the world

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Am J Med Genet A. – 2014 Nov 25 Authors Nizon M1, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S,Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S,Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V. Abstract Array comparative genomic hybridization […]

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New publication of Microgenomics Staff!

1 Oct , 2014 News from Microgenomics

New publication of Microgenomics Staff!

We invite you to read an interesting paper recently published on the journal Genetics in Medicine: “Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity“. Microgenomics Staff contributed to the draft of this publication. ABSTRACT: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is […]

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A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.

29 Aug , 2014 News from the world

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.

Mol Cytogenet. 2014 Aug 5. Authors Bonaglia MC, Giorda R, Zanini S. Abstract Terminal and interstitial deletions of 2p25.3 (size < Mb), detected by array-CGH analysis, have been reported in about 18 patients sharing common clinical features represented by early-onset obesity/ overweightness associated with intellectual disabilities (ID) and behavioural troubles. This observations led to hypothesize that 2p subtelomeric deletion should […]

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MECP2 duplication phenotype in symptomatic females: report of three further cases.

2 Apr , 2014 News from the world

Mol Cytogenet. 2014 Jan 28 Authors Novara F1, Simonati A, Sicca F, Battini R, Fiori S, Contaldo A, Criscuolo L, Zuffardi O, Ciccone R. Abstract BACKGROUND: Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with […]

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New publication of Microgenomics Staff

27 Feb , 2014 News from Microgenomics

New publication of Microgenomics Staff

We invite you to read an interesting paper recently published in the journal Molecular Cytogenetics . Microgenomics Staff contributed to the draft of this publication. This paper gives a detailed clinical description of three female subjects in which the array-CGH analysis showed a duplication in Xq28 involving MECP2 (methyl CpG -binding protein 2 , OMIM […]

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