Relatives with Opposite Chromosome Constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a Familial Pericentric Inversion

Abstract

Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only few cases of familial inheritance. Such chromosomal rearrangements may lead to production of unbalanced gametes. As a result of a recombination event in the inversion loop, 2 recombinants with duplicated and deficient chromosome segments, including the regions distal to the inversion, may be produced. We report on 2 relatives in a family with opposite terminal chromosomal rearrangements of chromosome 10, i.e. rec(10)dup(10p)inv(10) and rec(10)dup(10q)inv(10), due to familial pericentric inversion inv(10)(p15.1q26.12). Based on array-CGH results, we characterized the exact genomic regions involved and compared the clinical features of both patients with previous reports on similar pericentric inversions and regional differences within 10p and 10q. The fact that both products of recombination are viable indicates a potentially high recurrence risk of unbalanced offspring. This report of unbalanced rearrangements in chromosome 10 in 2 generations confirms the importance of screening for terminal imbalances in patients with idiopathic intellectual disability by molecular cytogenetic techniques such as FISH, MLPA or microarrays. It also underlines the necessity for FISH to define structural characteristics of such cryptic intrachromosomal rearrangements and the underlying cytogenetic mechanisms.

Reference genome sequences of two cultivated allotetraploid cottons, Gossypium hirsutum and Gossypium barbadense

“…24 and 25). This unexpected number of paracentric/pericentric inversions in cotton suggests a need for future exploration of their biological function, as described in Arabidopsis, wheat and humans [14][15][16] . We also detected 3,820 translocations (1,074 intra-chromosome translocations occupying 3.8 Mb and 2,746 inter-chromosome translocations occupying 6.8 Mb) (Supplementary Table 22).…”

Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)

“…6 An epilepsy phenotype has previously been reported in three patients (in a further patient EEG abnormalities but no clinically detectable seizures were observed) with distal 10q duplication syndrome, although the duplicated segment included a larger and more proximal region in respect to the current case, and in two patients with 7p23 deletion, only one overlapping to the deletion herein reported (Supplementary Table S1). 6,[9][10][11][12][13][14] Most of them had generalized drugresponsive seizures and diffuse spike and wave discharges on the EEG. 6,[9][10][11][12][13][14] Unlike these patients, the clinical presentation of the boy reported here also included focal seizures at the onset and a prominence of EEG abnormalities in the frontotemporal regions (►Fig.…”

“…6,[9][10][11][12][13][14] Most of them had generalized drugresponsive seizures and diffuse spike and wave discharges on the EEG. 6,[9][10][11][12][13][14] Unlike these patients, the clinical presentation of the boy reported here also included focal seizures at the onset and a prominence of EEG abnormalities in the frontotemporal regions (►Fig. 1D-F).…”

Relationship Between P15 Gene Mutation and Formation and Metastasis of Malignant Osteosarcoma

“…The proliferation of cells is highly dependent on the complete cell cycle, whose disruption or dysfunction may directly affect the tumor growth [ 24 ]. P15 gene, as an inhibitory factor in cell-cycle-dependent kinase (CDK), exerts its function mainly on G1 phase of the cell cycle via modulating the N-terminal protein expression of multiple tumor-suppressing factors, thereby inhibiting the abnormal growth of various malignant tumor cells [ 25 ].…”