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CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X‐linked infantile spasm syndrome
A girl with severe ISSX and a t(X;2) disrupting the CDKL5 gene in intron 3 and fusing CDKl5 and RPS7 genes is reported, letting us hypothesize that the chromosome 2 breakpoint mapped also within a gene and the rearrangement had produced fusion genes.
C-anaphases: a mitotic variant.
It is concluded that both the low frequency common and the high frequency familiar forms are mitotic variants without pathological significance.
Constitutional duplication 11q23 de novo involving the MLL gene.
The scarce number of cases and their heterogeneity do not allow for a reliable genotype-phenotype correlation, and it is concluded that the region 11q23 was involved in 6/8 cases.
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations
This case represents the first constitutional balanced translocation disrupting and fusing both genes and provides clues for the potential function and effects of these in the central nervous system.
Follow-up of an intelligent odd-mannered teenager with del(3)(p26). Remarks on authorship and ethical commitment.
The patient's peculiar cognitive and behavioral profile suggests that the 3p26 deletion is associated with a distinctive neuropsychological phenotype, and the comment on authorship and publication ethics is to urge the institutional ethics committee to arbitrate authorship conflicts and thereby be consistent with its ethical commitment.
A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma
- C. Córdova-Fletes, M. G. Domínguez, R. Ortíz-López
- Medicine, BiologyMolecular Syndromology
- 1 August 2012
The genetic delineation of the present sSMC further strengthens that the CES clinical presentation does not fit completely with the duplicated genetic content and that CES is actually a genomic disorder.
In search of a 9q13 latent centromere in 9qh polymorphic inversions.
- M. Gutiérrez-Angulo, A. I. Vásquez, A. L. Ramos, M. G. Domínguez, J. R. González-García, H. Rivera
- BiologyGenetic counseling
The number of cases tested was not enough to conclude that all the polymorphic inversions of chromosome 9 are genuine, and it was not possible to identify any neocentromere.
Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication
- R. Burnside, E. Lose, F. Mikhail
- Biology, MedicineAmerican journal of medical genetics. Part A
- 1 July 2009
This study demonstrates the clinical usefulness of whole genome high resolution aCGH analysis as a powerful molecular cytogenetic tool capable of detecting genomic imbalances due to cytogenetically visible but uncertain rearrangements.
Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23).
22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features
- Azubel Ramírez-Velazco, H. Rivera, Ana Isabel Vásquez-Velázquez, Thania Alejandra Aguayo-Orozco, Saturnino Delgadillo-Pérez, M. G. Domínguez
- MedicineColombia medica
- 13 September 2018
In the authors' small sample about ~56% of the patients, regardless of the clinical diagnosis, had the expected 22q11.2 deletion, remarking the importance of early cytogenetic diagnosis in order to achieve a proper integral management of the Patients and their families.