Application of multicolor banding combined with heterochromatic and locus-specific probes identify evolutionary conserved breakpoints in Hylobates pileatus

For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting.

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Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding

Prenatal Diagnosis ◽

10.1002/pd.2332 ◽

2009 ◽

Vol 29 (11) ◽

pp. 1058-1060 ◽

Cited By ~ 3

Author(s):

Ni-Chung Lee ◽

Shun-Ping Chang ◽

Cheng-Shyong Chang ◽

Chia-Hsiang Chen ◽

Dong-Jay Lee ◽

...

Keyword(s):

Inverted Duplication ◽

Multicolor Banding ◽

Subtelomeric Deletion ◽

Chromosome 18Q

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Human Ring Chromosomes – New Insights for their Clinical Significance

Balkan Journal of Medical Genetics ◽

10.2478/bjmg-2013-0013 ◽

2013 ◽

Vol 16 (1) ◽

pp. 13-19 ◽

Cited By ~ 4

Author(s):

R.S. Guilherme ◽

E Klein ◽

A.B. Hamid ◽

S Bhatt ◽

M Volleth ◽

...

Keyword(s):

In Situ Hybridization ◽

Clinical Signs ◽

Ring Chromosome ◽

Signs And Symptoms ◽

Molecular Techniques ◽

Ring Chromosomes ◽

Multicolor Banding ◽

Clinical Signs And Symptoms ◽

Clinical Problems

Abstract Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) previously published high resolution approaches such as multicolor banding (MCB), subcentromere-specific multi-color-FISH (cenM-FISH) and two to three-color-FISH applying locus-specific probes were used. Overall, ring chromosome derived from chromosomes 4 (one case), 10 (one case), 13 (five cases), 14, (three cases), 18 (two cases), 21 (eight cases), 22 (three cases), X (five cases) and Y (one case) were studied. Eight cases were detected prenatally, eight due developmental delay and dysmorphic signs, and nine in connection with infertility and/or Turner syndrome. In general, this report together with data from the literature, supports the idea that ring chromosome patients fall into two groups: group one with (severe) clinical signs and symptoms due to the ring chromosome and group two with no obvious clinical problems apart from infertility.

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