Premature ovarian failure in a patient with a complex chromosome rearrangement involving the critical region Xq24, characterized by analysis using fluorescence in situ hybridization by chromosome microdissection

2007 ◽  
Vol 88 (6) ◽  
pp. 1677.e9-1677.e13 ◽  
Author(s):  
Jörg Weimer ◽  
Subramaniyam Shivakumar ◽  
Sumita Danda ◽  
Nihal Thomas ◽  
Laia Pagerolls Ralui ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Premature Ovarian Failure ◽  
Critical Region ◽  
Chromosome Rearrangement ◽  
Ovarian Failure ◽  
Chromosome Microdissection ◽  
Complex Chromosome Rearrangement ◽  
Complex Chromosome

scholarly journals Identification of satellited markers by microdissection and fluorescence in situ hybridization: a clinical case of isodicentric chromosome 22

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Natalya A. Lemskaya ◽  
Svetlana A. Romanenko ◽  
Yulia V. Maksimova ◽  
Asia R. Shorina ◽  
Dmitry V. Yudkin
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Chromosome Painting ◽  
Chromosome Rearrangement ◽  
Marker Chromosome ◽  
Abnormal Development ◽  
Fish Analysis ◽  
Painting Probes ◽  
Whole Chromosome Painting

Abstract Background The presence of small supernumerary marker chromosomes (sSMCs) in a karyotype leads to diagnostic questions because the resulting extra material may cause abnormal development depending on the origin of the duplication/triplication. Because SMCs are so small, their origin cannot be determined by conventional cytogenetic techniques, and new molecular cytogenetic methods are necessary. Here, we applied a target approach to chromosome rearrangement analysis by isolating a chromosome of interest via microdissection and using it in fluorescence in situ hybridization (FISH) as a probe in combination with whole-chromosome painting probes. This approach allows to identify origins of both the euchromatin and repeat-rich regions of a marker. Case presentation We report a case of an adult male with congenital atresia of the rectum and anus, anotia, and atresia of the external auditory canal along with hearing loss. Karyotyping and FISH analysis with whole-chromosome painting probes of acrocentric chromosomes and the constructed microdissection library of the marker chromosome reliably identified an additional chromosome in some metaphases: mos 47,XY,+idic(22)(q11.2)[14]/46,XY [23]. Conclusion We propose to use whole-chromosome libraries and microdissected chromosomes in FISH to identify SMCs enriched with repeated sequences. We show that the methodology is successful in identifying the composition of a satellited marker chromosome.

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