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
23
Dec
GBC3 deletion mutation and Precocious puberty in a case of Simpson–Golabi–Behmel syndrome
GPC3 mutation/deletion and Simpson-Golbai-Behmel syndrome (SGBS). This syndrome is characterized by pre- and post- macrosomia and distinctive craniofacial features such as macrocephaly, coarse facial features, and palatal abnormalities. Mild-to-severe intellectual disability with or without structural brain anomalies are also commonly noted. Other variable findings include supernumerary nipples, diastasis recti,... Read More
14
Sep
12q21 Interstitial Deletions Review of the Literature
The segment 12q21 is relatively large (21.2 Mb) but contains only 60 genes. Such low gene density allows the evaluation of the potential role of each gene. Recently a 1.6 Mb critical region (CR) has been determined for rare 12q21 deletions’ most commonly described clinical features. Recalcati et al. reported... Read More
