Abstract
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 inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1.
| Original language | English |
|---|---|
| Pages (from-to) | 12-20 |
| Number of pages | 9 |
| Journal | Cytogenetic and Genome Research |
| Volume | 140 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - May 2013 |
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Keywords
- Array-CGH
- Deletion 2q14.1q21.2
- Duplication 2p22.3p22.2
- Mental retardation
- Paracentric inversion
- Pericentric insertion
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
- Molecular Biology
Cite this
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. / Manolakos, E.; Vetro, A.; Papadopoulou, E.; Kefalas, K.; Lagou, M.; Thomaidis, L.; Peitsidis, P.; Sifakis, S.; Divane, A.; Ziegler, M.; Liehr, T.; Zuffardi, O.; Papoulidis, I.
In: Cytogenetic and Genome Research, Vol. 140, No. 1, 05.2013, p. 12-20.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion
T2 - Molecular cytogenetic characterization of a four-break rearrangement
AU - Manolakos, E.
AU - Vetro, A.
AU - Papadopoulou, E.
AU - Kefalas, K.
AU - Lagou, M.
AU - Thomaidis, L.
AU - Peitsidis, P.
AU - Sifakis, S.
AU - Divane, A.
AU - Ziegler, M.
AU - Liehr, T.
AU - Zuffardi, O.
AU - Papoulidis, I.
PY - 2013/5
Y1 - 2013/5
N2 - 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 inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1.
AB - 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 inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1.
KW - Array-CGH
KW - Deletion 2q14.1q21.2
KW - Duplication 2p22.3p22.2
KW - Mental retardation
KW - Paracentric inversion
KW - Pericentric insertion
UR - http://www.scopus.com/inward/record.url?scp=84877653265&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84877653265&partnerID=8YFLogxK
U2 - 10.1159/000350868
DO - 10.1159/000350868
M3 - Article
C2 - 23652918
AN - SCOPUS:84877653265
VL - 140
SP - 12
EP - 20
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
SN - 1424-8581
IS - 1
ER -