E. S. Cantú

Publications36
h-index14
Citations1,137
Highly Influential Citations20
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All patients with the T(11;16)(q23;p13.3) that involves MLL and CBP have treatment-related hematologic disorders.
TLDR
All the mature monocytes contain the fusion genes as did some of the granulocytes and erythroblasts; none of the lymphocytes contained the fusion gene, and it is assumed that the critical fusion gene is 5'MLL/3'CBP.
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Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.
TLDR
Patients with anomalous skin pigmentation, particularly when it follows a pattern of Blaschko lines, should be appropriately evaluated for a possible association with chromosomal or genetic mosaicism or chimerism.
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Paternal uniparental disomy of chromosome 15 in a child with angelman syndrome
TLDR
Clinical, cytogenetic, and molecular evidence is reported on the 1 patient with paternal UPD for chromosome 15 who was found in the study population, and it is demonstrated that paternal U PD is infrequent in patients with Angelman syndrome.
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Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature.
TLDR
Results suggest that earlier reports of trisomy 9, which relied on conventional chromosome analysis of a few metaphase cells and/or only one tissue type, may not have excluded mosaicism, and that tr isomy 9 may be viable only in the mosaic state.
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Cytogenetic survey for autistic fragile X carriers in a mental retardation center.
A cytogenetic survey of 67 individuals previously identified as having mental retardation and autistic behaviors revealed 1 person (1.5%) with the fragile X chromosome (fra[X]) and 3 (4.5%) with…
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Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.
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Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons.
TLDR
It is suggested that 15q12 deletions are frequent in Angelman syndrome but presence of the deletion does not appear to distinguish different clinical phenotypes.
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Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.
TLDR
Ten genomic DNA probes, subcloned from inserts derived from a phage library constructed from the DNA of flow-sorted chromosomes, have been mapped to locations within 15q11-15q13 and can be used in most PWS patients to analyze the region of proximal 15q implicated in this syndrome.
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An atypical Turner syndrome patient with ring X chromosome mosaicism.
Small marker chromosomes (SMC) associated with severe Turner syndrome (TS) variants often represent reduced X chromosomes lacking the X inactivation center (XIC), perturbed dosage compensation, and…
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Fluorescence in situ hybridization (FISH) of a whole-arm translocation involving chromosomes 18 and 20 with alpha-satellite DNA probes: detection of a centromeric DNA break?
TLDR
No evidence is found to suggest that this split alpha-satellite DNA region has reduced or impaired the function of the centromere or that it contributed to the phenotype of the propositus.
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