5 Result(s)

Article

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH

The 4q- syndrome is a well known genetic condition caused by a partial terminal or interstitial deletion in the long arm of chromosome 4. The great variability in the extent of these deletions and the possible...

Emmanouil Manolakos, Konstantinos Kefalas, Annalisa Vetro… in Molecular Cytogenetics (2013)

Article

Erratum to: Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro… in Molecular Cytogenetics (2011)

Article

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes...

Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro… in Molecular Cytogenetics (2011)

Article

The use of array-CGH in a cohort of Greek children with developmental delay

The genetic diagnosis of mental retardation (MR) is difficult to establish and at present many cases remain undiagnosed and unexplained. Standard karyoty** has been used as one of the routine techniques for ...

Emmanouil Manolakos, Annalisa Vetro, Konstantinos Kefalas… in Molecular Cytogenetics (2010)

Article

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been pr...

Emmanouil Manolakos, Sandro Orru, Rosita Neroutsou… in Molecular Cytogenetics (2009)