Developmental delay

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.

3 Sep , 2015 News from the world

J Neurodev Disord. 2015 Aug 6 Authors Hu J, Liao J, Sathanoori M, Kochmar S, Sebastian J, Yatsenko SA, Surti U. Abstract Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with these disorders. However, phenotypes have been […]

Molecular investigations, CGH-Array, Autism, Molecular karyotype, Postnatal diagnosis, Disturbi del comportamento, Neurodevelopmental disorders, Developmental delay

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

30 Jun , 2015 News from the world

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!

Molecular investigations, CGH-Array, Molecular karyotype, Human cytogenetic, Postnatal diagnosis, Intellectual disability, Obesity, Developmental delay

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

2 Mar , 2015 News from the world

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 […]

Molecular investigations, CGH-Array, Molecular karyotype, Postnatal diagnosis, Intellectual disability, Disturbi del comportamento, Disturbo del linguaggio, Developmental delay

New publication of Microgenomics Staff

30 May , 2014 News from Microgenomics

We invite you to read an interesting paper recently published on the journal American Journal of Medical Genetics Part A. Microgenomics Staff contributed to the draft of this publication. The publication, entitled Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion, gives a detailed clinical description of three new cases showed a microduplication in 5q35 involving NSD1 gene. Abstract […]

Molecular investigations, CGH-Array, Developmental delay

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

30 May , 2014 News from the world

Molecular investigations, CGH-Array, Developmental delay

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 […]

Molecular investigations, CGH-Array, Intellectual disability, Publication, Developmental delay

New publication of Microgenomics Staff

27 Feb , 2014 News from Microgenomics

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 […]

Molecular investigations, CGH-Array, Intellectual disability, Publication, Developmental delay

New publication on HMG!

31 Jan , 2014 News from Microgenomics

Microgenomics Staff invites you to read an interesting paper, published on Human Molecular Genetics Journal, it is the result of a collaboration between several European centers. In this work A.C. Lionel and his colleagues have focused on the study of Copy Number Variation in 9q33.1 and rare map that involves the gene ASTN2. This gene […]

Molecular investigations, Autism, Attention deficit, Compulsive-obsessive disorders , Publication, Language delay, Developmental delay

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

30 Jan , 2014 News from the world

Hum Mol Genet. 2014 Gen 14. Authors Lionel AC1, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B,Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD,So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe […]

Molecular investigations, CGH-Array, Compulsive-obsessive disorders , Language delay, Developmental delay