Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?

Liehr, Thomas; Bartels, Iris; Zoll, Barbara; Ewers, Elisabeth; Mrasek, Kristin; Kosyakova, Nadezda; Merkaš, Martina; Hamid, AB; Eggeling, Ferdinand von; Posorski, Nicole; Weise, Anja

doi:10.1159/000316393

Cited by 4 publications

(3 citation statements)

References 20 publications

(10 reference statements)

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“…The sSMC of cases 1, 4-7, 9, 12, and 15 were microdissected, the DNA amplified by DOP-PCR (Telenius et al 1992) and subsequently hybridized to a genome-wide array (Liehr et al 2011). aCGH was done according to standard protocols using the 180 K chip of Agilent.…”

Section: Probe Generation For and Performing Of Array-comparative Genmentioning

confidence: 99%

How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set

et al. 2012

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Here a new fluorescence in situ hybridization (FISH-) based probe set is presented and its possible applications are highlighted in 34 exemplary clinical cases. The so-called pericentric-ladder-FISH (PCL-FISH) probe set enables a characterization of chromosomal breakpoints especially in small supernumerary marker chromosomes (sSMC), but can also be applied successfully in large inborn or acquired derivative chromosomes. PCL-FISH was established as 24 different chromosome-specific probe sets and can be used in two- up multicolor-FISH approaches. PCL-FISH enables the determination of a chromosomal breakpoint with a resolution between 1 and ∼10 megabasepairs and is based on locus-specific bacterial artificial chromosome (BAC) probes. Results obtained on 29 sSMC cases and five larger derivative chromosomes are presented and discussed. To confirm the reliability of PCL-FISH, eight of the 29 sSMC cases were studied by array-comparative genomic hybridization (aCGH); the used sSMC-specific DNA was obtained by glass-needle based microdissection and DOP-PCR-amplification. Overall, PCL-FISH leads to a better resolution than most FISH-banding approaches and is a good tool to narrow down chromosomal breakpoints.

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Section: Probe Generation For and Performing Of Array-comparative Genmentioning

confidence: 99%

How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set

et al. 2012

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“…UBCA usually involve several megabases of DNA, and carriers of such a UBCA are ascertained in most cases either through an abnormal phenotype or adverse reproductive effects [10,11]. …”

Section: Introductionmentioning

confidence: 99%

New cytogenetically visible copy number variant in region 8q21.2

Manvelyan

Cremer²,

Lancé³

et al. 2011

Mol Cytogenet

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BackgroundCytogenetically visible unbalanced chromosomal abnormalities (UBCA), reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. It may be speculated, that some of the UBCA may be similar or identical to copy number variants (CNV) of the human genome.ResultsHere we report on a yet unreported cytogenetically visible copy number variant (CNV) in the long arm of chromosome 8, region 8q21.2, detected in three unrelated clinically healthy carriers.ConclusionThe first description of a cytogenetically visible CNV/UBCA in 8q21.2 shows that banding cytogenetics is far from being outdated. It is a cost efficient, up-to-date method for a single cell specific overview on the whole genome, still prepared to deliver unexpected findings.

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“…Rarely, trisomy 4p cases appear as an additional marker chromosome [7, 8]. This additional chromosome is a derivative chromosome resulting from a 3:1 segregation of a parental balanced translocation, and consequently accompanies partial trisomy of a partner chromosome.…”

Section: Discussionmentioning

confidence: 99%

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

Kim

Ryoo

et al. 2013

Ann Lab Med

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We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.

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Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?

Cited by 4 publications

References 20 publications

How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set

How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set

New cytogenetically visible copy number variant in region 8q21.2

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

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