Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics.

Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics. Abstract Text:

Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be identified or characterized unambiguously by conventional banding cytogenetics alone, and they are generally equal in size or smaller than a chromosome 20 of the same metaphase spread. sSMC are reported in 0.043% of newborn infants and 0.075% of prenatal cases. Molecular cytogenetics is necessary to characterize the origin of an sSMC, and many highly sophisticated approaches are available throughout the literature for their comprehensive description. However, because in a prenatal diagnostic laboratory such techniques are not available, I suggest here a straightforward scheme to characterize at least the sSMC's chromosomal origin as quickly as possible. Based on this scheme, it is possible to compare the actual present case with similar cases from the literature, which are summarized on http://www.med.uni-jena.de/fish/sSMC/00START.htm./ For a more wide-ranging sSMC characterization, a specialized laboratory should be contacted, e.g., my laboratory.

Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics. Publishing Authors By Initials

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Methods in molecular biology (Clifton, N.J.)

VOLUME: 444

Page Numbers: 27-38

Journal Abbreviation: Methods Mol. Biol.

ISSN: 1064-3745

DAY: 21

MONTH: 04

YEAR: 2008

Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 9214969

Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics.

AFFILIATION: Institute of Human Genetics and Anthropology, Friedrich-Schiller-University Jena, Jena, Germany.

Country: United States

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Methods Mol Biol

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics Related Publications

• An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype.
• Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics.
• Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
• Distal partial trisomy 1q: report of two cases and a review of the literature.
• First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16.
• Fluorescence in situ hybridization for prenatal screening of chromosomal aneuploidies.
• Novel complex t(V;9;22) rearrangements in three cases with chronic myeloid leukemia and a rare translocation in a case with classical Philadelphia chromosome.
• Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level.
• Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature.
• Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon.
• Rapid Prenatal Aneuploidy Screening by Fluorescence In Situ Hybridization (FISH).
• Re-oxygenation of haemoglobin in livores after post-mortem exposure to a cold environment.
• Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
• The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1.
• Theory-guided translation: emphasizing human connection.
• Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature.
• [Assessment of epidemiologic situation in tuberculosis among young men in the Federal Republic of Germany]
• [Classification of liver diseases. What is currently practiced and what is necessary for clinical, biochemical, biopsy and functional diagnosis]