FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases.
- J. Crolla, F. Long, H. Rivera, N. Dennis
- Medicine, BiologyAmerican journal of medical genetics
- 3 February 1998
Euchromatin was detected in 9 out of 18 SMC tested with paints and/or PCR, and abnormal phenotypes were most commonly observed in patients with small ring shaped SMCs containing euchromatic sequences.
Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: Delineation of clinical subtypes
- H. García-Castillo, A. I. Vásquez-Velásquez, H. Rivera, P. Barros-Núñez
- Medicine, BiologyAmerican Journal of Medical Genetics. Part A
- 1 July 2008
The distinct MVA clinical groups delineated here point to involvement of at least another mitotic spindle checkpoint gene in addition to the BUB1B gene.
A familial Xp+ chromosome, dup (Xq26.3-->qter).
Fluorescence in situ hybridisation using X and Y chromosome paints, as well as cosmids A and 1A1 specific for loci within Xq28, confirmed both the identity of the extra segment and the entirety of the Xp pseudoautosomal region, allowing for the effects of X inactivation in the female carriers.
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.
Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.
A unique collection of eight independent patient-derived cell lines, each of which contains a neocentromere on a supernumerary inversion duplication of a portion of human chromosome 13q, are described, suggesting that chromosomes 13q has an increased propensity for neocentromeres formation, relative to some other human chromosomes.
Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome.
Findings in the present series were normal parental age in the de novo 45-chromosome cases, an apparently random distribution of telomeric breakpoints, and the occurrence of different breakpoints within the 15q1 region.
A new form of hypertrichosis inherited as an X-linked dominant trait
A family with a distinct form of congenital generalized hypertrichosis was studied, who exhibited asymmetric hair distribution, and a back mutation is postulated as the origin of this new phenotype.
Alphoidless centromere of a familial unstable inverted Y chromosome.
- H. Rivera, A. I. Vassquez, M. L. Ayala-Madrigal, M. L. Ramírez-Dueńas, I. P. Dávalos
- BiologyAnnales de Genetique
This chromosome was metacentric and had a single Cd-positive primary constriction, but occasionally assumed a normal acrocentric aspect, and should be regarded as a remarkable pseudodicentric because the major alphoid array was located at the inactive centromere but not at the active one.
Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23
The syndrome may result in a number of cases from a visible deletion, and in other instances from a more conventional gene mutation, although the molecular mechanism is uncertain.
Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break.
- H. Rivera, A. I. Vásquez, D. García-Cruz, J. Crolla
- BiologyAmerican journal of medical genetics
- 6 August 1999
The patient's rearrangement represents the eighth chromosome-13-derived marker with a nonalphoid neocentromere located at 13q, which plausibly result from the epigenetic activation of a latent centromere, which may even be a telomere with neocentric activity.