30
Jan
22q11.2 deletion and often overlooked orthopedic manifestations a review
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22q11.2 deletion and often overlooked orthopedic manifestations a review. 22q11.2 deletions – caused by a deletion within the long arm of chromosome 22 – are one of the most common microdeletion syndromes. Orthopedic issues (relating to the bones or muscles) are common in patients with 22q11.2 deletions, with cervical spine... Read More
22
Jan
7p15 deletion as the cause of hand-foot-genital syndrome
7p15 deletion as the cause of hand-foot-genital syndrome. Hand-foot-genital syndrome (HFGS) is a rare genetic disorder that is characterized by malformations in the hands, feet and the genitourinary tract. The most frequent limb abnormalities in HFGS include short thumbs and fingers, small feet, clinodactyly (curvature) of the fifth finger, and... Read More
28
Dec
BPTF gene mutation 17q24.2 deletion – microcephaly, developmental and speech delay
Chromatin remodeling is essential for DNA accessibility and gene regulation, and its disruption leads to a variety of disorders. The protein complex NURF (nucleosome remodeling factor) involved in chromatin remodeling is important in regulating fetal development. NURF contains the proteins SNF2L, pRBAP46/48, and BPTF. BPTF, in particular, is expressed throughout... Read More
02
Nov
Chromosome 1q42 deletion and renal cell carcinoma
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a cancer syndrome that is caused by mutations in the FH gene in 90% of cases. In the other 10% of cases, the genetic cause is unknown. Here, the authors examined 28 patients from 13 families where no point mutation in FH... Read More
02
Nov
Atypical Chromosome X-inactivation
In females, because there are 2 X chromosomes, one of them undergoes a phenomenon of X-inactivation where it becomes silenced and is not expressed. The chromosome that becomes silenced in each cell is usually random. However, when a translocation involving the X chromosome occurs, the structurally abnormal X chromosome is... Read More
