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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.
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.
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.
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.
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
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.
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.
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
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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