Postnatal diagnosis

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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Pediatric Epilepsy Paper

30 Jun , 2014 News from Microgenomics

Pediatric Epilepsy Paper

Microgenomics Staff invites you to read an interesting paper on CNVs and epilepsy, recently published by a group of American colleagues in the European Journal of Human Genetics. In this work, entitled 6q22.1 microdeletion and susceptibility to pediatric epilepsy, Szafranski and colleagues have focused on the study of 6 patients, unrelated to each other, with microdeletion […]

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Postnatal diagnosis

8 Jan , 2014 Download

Microgenomics Laboratory offers services of postnatal diagnosis using the array-CGH technique. Nowadays molecular karyotyping is considered a first-tier diagnostic test for individuals with unexplained mental retardation, developmental delay, autism spectrum disorders, epilepsy or multiple congenital anomalies. Below we provide a detailed brochure about the analysis and platform used in postnatal diagnosis.

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List of pathologies – MicrogenChip 180K

8 Jan , 2014 Download

Nowadays Molecular Karyotyping is considered a first-tier diagnostic test for individuals with unexplained mental retardation, developmental delay, autism spectrum disorders, epilepsy or multiple congenital anomalies. It has been demonstrated that molecular karyotype guarantees a much higher diagnostic yield (15%-20%) than conventional karyotype (~3%). The MicrogenChip 180K and MicrogenChip 180K CGH+SNP arrays have been specifically designed for the application of molecular karyotype in postnatal […]

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Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de-novo terminal deletion of chromosome 9p.

5 Jul , 2013 News from the world

Eur J Med Genet. 2013 Jun 25 Authors Bartels I, Pütz I, Reintjes N, Netzer C, Shoukier M. Institute of Human Genetics, University Medical Center Goettingen, Germany. Abstract Distal deletion 9p is associated with gonadal dysfunction in XY individuals. Little is known about the gonadal function and fertility of XX females with this condition. We […]

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