Titlebook: Human Ring Chromosomes; A Practical Guide fo Peining Li,Thomas Liehr Book 2024 The Editor(s) (if applicable) and The Author(s), under exclu

传授知识

Abnormal

Mri485

Ring Chromosome 2mality. However, fourteen unique RC2 cases are reviewed here as the sole aberration. Males and females are equally represented, with one prenatal-only ascertainment. Notably, one individual had a natural history of up to 34 years. No normal cells were identified in at least seven individuals who dis

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Exonerate

Ring Chromosome 4icism for a normal cell line was observed, but no other forms of constitutional mosaicism involving different stable anomalies of chromosome 4 were reported. All published RC4 were large with distal breakpoints most often in p15-p16 and q34-q35. Given the variability of genomic imbalance related to

adipose-tissue

Ring Chromosome 5g syndrome-associated phenotypes are the most common clinical findings in individuals with RC5 when the ring replaces a normal chromosome 5. Small supernumerary ring chromosome 5 (sSRC5) may result in different phenotypes. In addition, RC5-derived mosaicism is common due to ring instability. RC5 can

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Ring Chromosome 66 cases occur de novo except for very rare cases having parental origin. Its preponderance is seen more in males compared to females with majority of RC6 cases identified postnatally with short stature, gross developmental delay, and variable dysmorphic features, whereas prenatal cases are often pre

不利

Ring Chromosome 7ne prenatal clinical case with RC formation. Reasons are not clear yet, even though it is noteworthy, that chromosome 7 is underlying imprinting, which may have a negative effect on viability of RC7 carriers. It is interesting that all yet reported 24 cases of RC7 have three typical clinical feature

FIG

anchor

Ring Chromosome 9lysis (CMA), and genomic sequencing have been used to define the ring structure, dynamic mosaicism, genomic imbalances, and ring formation mechanism from cases of RC9. All reported cases of RC9 showed an incomplete and instable ring and occurred de novo by follow-up parental studies. Prenatal diagno