31
Jan
Partial trisomy 6p
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Partial trisomy 6p is a rare chromosomal anomaly associated with low birth weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart defects and renal abnormalities. In most previously reported cases trisomy 6p was associated with the partial monosomy of another chromosome, often due to parental balanced translocation. This further... Read More
31
Jan
WAGR syndrome 11p13 deletion
WAGR syndrome is a rare genetic disorder associated with the deletion of chromosome 11p13, involving genes WT1 and PAX6, and features Wilms’ tumor, aniridia, genitourinary anomalies, as well as varying degrees of intellectual disabilities. Some other findings may include obesity, glaucoma, cataracts, kidney failure, congenital diaphragmatic hernia, and autism. Wang... Read More
31
Jan
Interstitial deletions in proximal regions of 6q
Interstitial microdeletions in the proximal region of the long arm (q) of chromosome 6 are rare. There have been previous studies that show a correlation between a candidate gene SIM1 located at 6q16.3 and Prader-Willi syndrome (PWS)-like clinical manifestations such as hypotonia and developmental delay. Machida et al. present 12... Read More
