22
Feb
Chromosome 17q duplications
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Chromosome 17q12 duplications Individuals with chromosome 17q12 duplications may have a wide range of clinical features. Most notably, such individuals are found to have cognitive or developmental delays, psychiatric or neurological concerns, specific facial features, as well as defects of the eyes, heart and kidneys1. However, there is likely an... Read More
22
Feb
Chromosome 20p11.2 deletions cause congenital hyperinsulinism
Chromosome 20p11.2 deletions cause congenital hyperinsulinism. Persistent hyperinsulinism (HI) is a rare genetic condition manifested by unregulated insulin production and hypoglycemia. Laver et al. examined 1,063 undiagnosed individuals that were pursuing genetic testing for hyperinsulinism with the aim of identifying new genetic causes of HI. Whole genome sequencing detected three... Read More
18
Feb
Silver-Russell syndrome
Silver-Russell syndrome (SRS) is a heterogeneous disorder that is most often caused by the loss of paternal methylation at the 11p15.5 chromosome or by maternal uniparental disomy for chromosome 7. Less common variants of Silver-Russell syndrome are related with malfunctions of other genes, including the PLAG1 gene, located at the... Read More
18
Feb
16p11.2 deletion and duplication syndromes
16p11.2 deletion and duplication syndromes are typically characterized by developmental delay, intellectual disability, behavioral and psychiatric concerns, weight issues, congenital anomalies, and epilepsy. The 16p11.2 region of the chromosome contains many low-copy repeats where atypical recombination events occur, and lead to copy number variations (CNVs). Vos et al. report... Read More
18
Feb
Xia-Gibbs syndrome
Xia-Gibbs syndrome (XGS) is a rare disorder manifested by intellectual disability, speech delay, hypotonia, scoliosis, delayed brain myelination, and a large cisterna magna. In most cases XGS is caused by mutations in the AHDC1 gene, located at 1p36.11p35.3. Bertrand et al. presented two patients with XGS who had small deletions... Read More
