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 hallux valgus (a deformity of...
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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 the body. The BPTF gene...
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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 has been found. These persons...
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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 usually preferentially inactivated. If, due...
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