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Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T - Mol Cytogenet (2008)

Bottom Line: Thus, in summary, now 22 cases of unique complex sSMC are available in the literature.However, this special kind of sSMC might be under-diagnosed among sSMC-carriers.More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array-CGH) might identify them to be more frequent than only ~0.9% among all sSMC.

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Affiliation: Institut für Humangenetik und Anthropologie, Kollegiengasse 10, D-07743 Jena, Germany. i8lith@mti.uni-jena.de.

ABSTRACT

Background: Small supernumerary marker chromosomes (sSMC) are present ~2.6 x 106 human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape. Besides the sSMC present in Emanuel syndrome, i.e. der(22)t(11;22)(q23;q11), only few so-called complex sSMC are reported.

Results: Here we report three new cases of unique complex sSMC. One was a de novo case with a dic(13 or 21;22) and two were maternally derived: a der(18)t(8;18) and a der(13 or 21)t(13 or 21;18). Thus, in summary, now 22 cases of unique complex sSMC are available in the literature. However, this special kind of sSMC might be under-diagnosed among sSMC-carriers.

Conclusion: More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array-CGH) might identify them to be more frequent than only ~0.9% among all sSMC.

No MeSH data available.


Related in: MedlinePlus

Origin of unique complex sSMC: de novo, maternal or due to a parental translocation (parental t).
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Figure 5: Origin of unique complex sSMC: de novo, maternal or due to a parental translocation (parental t).

Mentions: According to Tab. 1 and summarized in Fig. 5 only 50% of unique complex sSMC are de novo. The remainder 50% are parentally derived: 20% of the patients inherited the sSMC directly – here only maternal inheritance is reported yet. In the remainder 30% of the cases the unique complex sSMC was part of a balanced translocation in one parent. The latter resembles to the mode of formation of the most frequent complex sSMC, the der(22)t(11;22) [12].


Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T - Mol Cytogenet (2008)

Origin of unique complex sSMC: de novo, maternal or due to a parental translocation (parental t).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2375881&req=5

Figure 5: Origin of unique complex sSMC: de novo, maternal or due to a parental translocation (parental t).
Mentions: According to Tab. 1 and summarized in Fig. 5 only 50% of unique complex sSMC are de novo. The remainder 50% are parentally derived: 20% of the patients inherited the sSMC directly – here only maternal inheritance is reported yet. In the remainder 30% of the cases the unique complex sSMC was part of a balanced translocation in one parent. The latter resembles to the mode of formation of the most frequent complex sSMC, the der(22)t(11;22) [12].

Bottom Line: Thus, in summary, now 22 cases of unique complex sSMC are available in the literature.However, this special kind of sSMC might be under-diagnosed among sSMC-carriers.More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array-CGH) might identify them to be more frequent than only ~0.9% among all sSMC.

View Article: PubMed Central - HTML - PubMed

Affiliation: Institut für Humangenetik und Anthropologie, Kollegiengasse 10, D-07743 Jena, Germany. i8lith@mti.uni-jena.de.

ABSTRACT

Background: Small supernumerary marker chromosomes (sSMC) are present ~2.6 x 106 human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape. Besides the sSMC present in Emanuel syndrome, i.e. der(22)t(11;22)(q23;q11), only few so-called complex sSMC are reported.

Results: Here we report three new cases of unique complex sSMC. One was a de novo case with a dic(13 or 21;22) and two were maternally derived: a der(18)t(8;18) and a der(13 or 21)t(13 or 21;18). Thus, in summary, now 22 cases of unique complex sSMC are available in the literature. However, this special kind of sSMC might be under-diagnosed among sSMC-carriers.

Conclusion: More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array-CGH) might identify them to be more frequent than only ~0.9% among all sSMC.

No MeSH data available.


Related in: MedlinePlus