Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

Emmanouil Manolakos,Annalisa Vetro,Eleftheria Papadopoulou,Konstantinos Kefalas,Magdalini Lagou,Loretta Thomaidis,Panagiotis Peitsidis,Stavros Sifakis,A. Divane,Monika Ziegler,Thomas Liehr,Orsetta Zuffardi,Ioannis Papoulidis

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

2013

Emmanouil Manolakos
Annalisa Vetro
Eleftheria Papadopoulou
Konstantinos Kefalas
Magdalini Lagou
Loretta Thomaidis
Panagiotis Peitsidis
Stavros Sifakis
A. Divane
Monika Ziegler
Thomas Liehr
Orsetta Zuffardi
Ioannis Papoulidis

We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from his father having a balanced paracentric i

Keywords:

Partial Monosomy
Chromosomal inversion
Genetics
Abnormality
Biology
Gene duplication
Partial Trisomy
Molecular biology
interstitial duplication

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