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Case presentation We discuss a two-year-old Japanese boy with 2q37 deletion syndrome who had the typical facial appearance, coarctation of the aorta, and a global developmental delay, but not affected by brachydactyly and obesity. HDAC4 was homozygous deletion of HDAC4 at 2q37. 3 and duplications of DVL1 at 20p12. 3 and GPCPD1 at 20p12. 3. Conclusions at 1p36. 32 and 20p12. 3. 3 respectively, this report discusses the peculiar phenotypes in a boy with 2q37 deletion and additional CNVs at 1p36. 33 and 20p12. 3. The results show that the phenotypic variations and unusual features of 2q37 deletion syndrome are not merely explained by the deleted size or genes present in 2q37, but that external CNVs can account for at least partially for their variant phenotypes. Accumulating the CNV results for chromosomal disorders will be helpful in determining the syndromic phenotypes and rare complications of concurrent CNVs.
Source link: https://doi.org/10.1186/1755-8794-7-19
Abstract Xanthogranulomatous pyelonephritis is characterized by the destruction of renal parenchyma and granulomatous inflammation by lipid-laden foamy macrophages as well as inflammatory infiltration and acute renal fibrosis. A small deletion of chromosome 2q37, which is a rare condition with roughly 100 cases reported worldwide, has caused brachydactyment syndrome and mental retardation syndrome.
Source link: https://doi.org/10.1055/s-0039-1697624
The older sister with Albright hereditary osteodystrophy and the younger one with CHARGE syndrome are both characterized genetically, while the younger one has CHARGE syndrome. Results The genetic analysis revealed that both sisters displayed a 2q37 deletion as a result of maternal unbalanced segregation of a 2;21 translocation. Conclusions This is the first report of a 2q37 deletion in which differential diagnosis of CHARGE syndrome is required due to the occurrence of choanal atresia.
Source link: https://doi.org/10.1530/eje-08-0865
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