By Thomas Liehr
Human beings as a rule have a complete of forty six chromosomes, with each one chromosome current two times, except the X and Y chromosomes in men. a few 3 million humans all over the world, even though, have forty seven chromosomes: they've got a small supernumerary marker chromosome (sSMC) as well as the forty six basic ones. This sSMC can originate from anyone of the 24 human chromosomes and will have assorted shapes. nearly one 3rd of sSMC companies convey medical signs, whereas the remainder thirds show up no phenotypic effects.
This advisor represents the 1st booklet ever released in this subject. It offers the newest learn effects on sSMC and present wisdom in regards to the genotype-phenotype correlation. the point of interest is on genetic diagnostics in addition to on prenatal and fertility-related genetic counseling. a distinct function is that examine meets perform: quite a few sufferer stories supplement the scientific facets and depict the reviews of households dwelling with a friend with an sSMC.
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Additional info for Small Supernumerary Marker Chromosomes (sSMC): A Guide for Human Geneticists and Clinicians
This kind of ring has only rarely been reported for sSMC, and even then was observed in “larger” sSMC or SMC (Starke et al. 2003). This might be connected with steric problems this mechanism may face in sSMC (Fig. 3B). Third, for the overwhelming majority of ring-shaped sSMC a ring formation starting from a centric minute is suggested, which during karyotypic evolution acquires the ring shape, maybe to become more stable (Liehr et al. 2004; Fig. 3C). : The formation of double rings is well known and frequently observed.
It is thought to be due to a sister chromatid exchange with a normal centromere division (Ramirez-Duenas and Gonzalez 1992) – see Sect. 5. 4 Complex sSMC Complex rearranged sSMC (Trifonov et al. 2008) are only identifiable as such after molecular (cytogenetic) analysis. In cytogenetic analysis they look like centric minute-shaped, ring-shaped, or inverted-duplication-shaped sSMC. 6 Multiple sSMC 27 rearranged sSMC are represented by the cases with ES (Carter et al. 2009; see Sect. 1). The carriers of this special derivative chromosome 22 (der(22)t(11;22) (q23;q11)) normally inherit it from a parent who has a balanced translocation t(11;22)(q23;q11).
1) Irrespective of all these points, the following data are available on the general effects of sSMC presence: 1. In approximately 70% of cases a de novo sSMC has no phenotypic effects (Graf et al. 2006). More specifically, the risk of an abnormal phenotype associated with a de novo sSMC is 7% if the sSMC is derived from chromosome 13, 14, 21, or 22 and 28% if the SMC is coming from nonacrocentric chromosomes (Crolla 1998). Also, more than 98% of inherited sSMC carriers are clinically normal (Baldwin et al.