Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

@article{Akta2010DerivativeC1,
  title={Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair},
  author={Dilek Aktaş and Eda Utine and Kristin Mrasek and Anja Weise and Ferdinand von Eggeling and Kalbiye Yalaz and Nicole Posorski and Nurten A Akarsu and Mehmet Alikaşifoğlu and Thomas Liehr and Erg{\"u}l Tunçbilek},
  journal={Molecular Cytogenetics},
  year={2010},
  volume={3},
  pages={10 - 10}
}
BackgroundGenomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures. Furthermore, 1q terminal deletions have been submitted in the recent reports and the absence of corpus callosum has been related to the… 

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References

SHOWING 1-10 OF 22 REFERENCES

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

TLDR
This case study shows that identifying a microdeletion as the cause of learning disability is not only important for genetic counselling but might also lead to therapeutic intervention.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

TLDR
The clinical presentation of 13 new patients with a submicroscopic, subtelomeric 1qter deletion has clear similarities with previously reported cases with a terminal 1q deletion, and the molecular characterisation of the deletion size is reported on.

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array‐CGH

TLDR
This study has shown the importance of array‐CGH in investigating patients who have clinical features suggestive of a chromosome abnormality, but with apparently balanced chromosome rearrangements and demonstrated that the array-CGH technique provides a much greater insight into submicroscopic chromosome imbalances than conventional cytogenetic techniques.

GLUT1 deficiency syndrome – 2007 update

TLDR
The increasing number of patients, molecular and biochemical analysis, recent research into ketogenic diet mechanisms, and the development of animal models for GLUT1DS have brought substantial insights in disease manifestations and mechanisms.

A 2‐Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

TLDR
Using microsatellite and single nucleotide polymorphism (SNP) markers, this work has mapped the deleted regions in seven patients with terminal deletions of chromosome 1q to define a 2.0‐Mb microcephaly critical region including the 1q43‐1q44 boundary and no more than 11 genes.

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications

TLDR
Cytogenetic analysis showed a de novo terminal chromosome 1 long arm deletion and the changing craniofacial phenotype of this patient with age is described as part of the del(1)(q) syndrome natural history.

1p microdeletion in sibs with minimal phenotypic manifestations.

TLDR
These sibs with a paracentric inversion of chromosome 1 and a small deletion of the same chromosome may represent the first evidence that deletion of 1p34.1-->1p 34.3 may have little impact on the phenotype.

Diagnostic genome profiling in mental retardation.

TLDR
The results indicate that the diagnostic yield of this approach in the general population of patients with MR is at least twice as high as that of standard GTG-banded karyotyping.

Two new cases of pure 1q terminal deletion presenting with brain malformations

TLDR
Reviewing all the cases of pure 1q terminal deletion in the literature suggests that it is a clinically recognizable syndrome.

Molecular mechanisms for constitutional chromosomal rearrangements in humans.

TLDR
The identification of genome architectural features conferring susceptibility to rearrangements has been accomplished using methods that enable investigation of regions of the genome that are too small to be visualized by traditional cytogenetics and too large to be resolved by conventional gel electrophoresis.