Month

January 2023

31
Jan

Partial trisomy 6p

  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...
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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 Wilmsā€™ 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...
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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...
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