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Sex Chromosome Haploty**
Chromosomes X and Y have been true homologues and have evolved differently over the years. The Y chromosome has shrunk to about 60 Mb in size as a...
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Ring Chromosome 10
Ring chromosome 10 (RC10) has been described in the literature in 18 live-born patients, five of them with breakpoints identified by chromosome...
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Ring Chromosome 5
Human ring chromosome 5 (RC5) is rare, only accounts for approximately 1.3% of the reported human ring chromosomes (RCs). Cri-du-Chat syndrome and...
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Ring Chromosome 17
Ring chromosome 17 (RC17) that replaces a normal chromosome 17 homologue is extremely rare, and only about 20 RC17 cases were reported in literature....
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Ring Chromosome 18
Although it is ultra-rare, ring chromosome 18 (RC18) is one of the most commonly occurring congenital ring chromosomes (RCs). This is likely due to...
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Ring Chromosome 9
Ring chromosome 9 (RC9) is a rare structural chromosome abnormality. Karyoty**, fluorescence in situ hybridization (FISH), chromosome microarray...
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Ring Chromosome Y
Cases with ring chromosome Y (RCY) were detected using karyoty**, fluorescence in situ hybridization (FISH), Southern blotting, PCR analysis, and...
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Ring Chromosome 1
Human chromosome 1 is the largest chromosome and comprises ~249 million base pairs (Mb). Constitutional ring chromosome 1 (RC1) is an ultra-rare...
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Ring Chromosome 21
Ring chromosome 21 (RC21) is detected using karyoty**, fluorescence in situ hybridization (FISH), and chromosome microarray analysis (CMA) to...
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Chromosome Bandings and Recognition
Chromosome banding can be defined as the lengthwise variation in staining properties along a chromosome stained with a dye. Chromosome banding became...
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Ring Chromosome 3
Ring chromosome 3 (RC3) is an ultra-rare constitutional chromosomal abnormality and has been described in only 13 live-born patients since 1966....
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Ring Chromosome 15
Ring chromosome 15 (RC15) can be detected using cell-based karyoty** and fluorescence in situ hybridization (FISH) test to determine its structure...
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Ring Chromosome 22
About 250 cases of ring chromosome 22 (RC22) have been reported in the literature. Approximately 90% of RC22 cases have a deletion of the terminal...
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Ring Chromosome 20
Ring Chromosome 20 (RC20) was first reported in 1972 and there are now over 120 patients described in the literature, with more females than males...
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Ring Chromosome 13
Ring chromosome 13 (RC13) is detected using karyoty**, fluorescence in situ hybridization (FISH), and chromosome microarray analysis (CMA) to...
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Ring Chromosome X
Cases with ring chromosome X (RCX) were detected using karyoty**, fluorescence in situ hybridization (FISH), Southern blotting, PCR analysis, and...
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Ring Chromosome 6
Ring chromosome 6 (RC6) is a rare constitutional structural abnormality that generally occurs during meiosis or early post-zygotic mitosis. Most of...
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Ring Chromosome 7
In general, ring chromosomes (RCs) are among the rarest constitutional chromosomal aberrations. Hereby, chromosome 7 comprises only 23 postnatal and...
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Ring Chromosome 4
We describe the cytogenomic and clinical characteristics of 47 individuals of ring chromosome 4 (RC4) published in the literature. In nine cases,...
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Ring Chromosome 14
The exact physiopathology of ring chromosome 14 syndrome (RC14) (OMIM#616606) is currently unknown but it definitely does not rely only on the 14q...