TY - JOUR
T1 - Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement
T2 - Cytogenetic and Molecular Characterization
AU - Alesi, Viola
AU - Orlando, Valeria
AU - Genovese, Silvia
AU - Loddo, Sara
AU - Pisaneschi, Elisa
AU - Pompili, Daniele
AU - Surace, Cecilia
AU - Restaldi, Fabrizia
AU - Digilio, Maria C.
AU - Dallapiccola, Bruno
AU - Dentici, Maria L.
AU - Novelli, Antonio
PY - 2017/7/1
Y1 - 2017/7/1
N2 - Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than 2 chromosomal breakpoints. They are associated with different outcomes depending on the deletion/duplication of genomic material, gene disruption, or position effects. Balanced CCRs can also undergo missegregation during meiotic division, leading to unbalanced derivative chromosomes and, in some cases, to affected offspring. We report on a patient presenting with developmental and speech delay, growth retardation, microcephaly, hypospadias, and dysmorphic features, harboring an interstitial 10q21.1q23.31 duplication, due to recombination of a paternal CCR. Application of several cytogenetic and molecular techniques allowed determining the biological bases of the rearrangement, understanding the underlying chromosomal mechanism, and assessing the reproductive risk.
AB - Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than 2 chromosomal breakpoints. They are associated with different outcomes depending on the deletion/duplication of genomic material, gene disruption, or position effects. Balanced CCRs can also undergo missegregation during meiotic division, leading to unbalanced derivative chromosomes and, in some cases, to affected offspring. We report on a patient presenting with developmental and speech delay, growth retardation, microcephaly, hypospadias, and dysmorphic features, harboring an interstitial 10q21.1q23.31 duplication, due to recombination of a paternal CCR. Application of several cytogenetic and molecular techniques allowed determining the biological bases of the rearrangement, understanding the underlying chromosomal mechanism, and assessing the reproductive risk.
KW - Chromosome 10q
KW - Complex chromosome rearrangement
KW - Interstitial duplication
KW - Meiotic recombination
UR - http://www.scopus.com/inward/record.url?scp=85018666898&partnerID=8YFLogxK
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U2 - 10.1159/000475490
DO - 10.1159/000475490
M3 - Article
C2 - 28478456
AN - SCOPUS:85018666898
VL - 151
SP - 179
EP - 185
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
SN - 1424-8581
IS - 4
ER -