Molecular analysis of the Y-chromosome specific STS region by real time PCR and Uniplex PCR amplification of Y chromosome specific six sequence tagged sites (STS) primers were used for identifying AZF gene microdeletion
It may be congenital such as cryptochidism, spermatogenic arrest, Y chromosome microdeletion
and sertoli cell only syndrome.
Her son "has the same microdeletion
in FAAH-OUT, but does not have the other mutation that confers reduced FAAH function," Cox said.
All cases were tested with both SALSA P070 specific for subtelomeres and SALSA P245 specific for known microdeletion
Ms Sumaya Khan, the plaintiff, contended through a counsel that she developed some post-pregnancy complications and her gynaecologist advised fetal karyotyping and microdeletion
Angelman syndrome is associated with a microdeletion
on chromosome 15 encompassing the ubiquitin protein ligase E3a (UBE3A) gene.
His rare 1q44 microdeletion
syndrome causes him difficulties to talk and move.
Based on application, the market is segmented into Trisomy, microdeletion
syndrome, and other applications.
Clinical findings in 32 patients with 22qll.2 microdeletion
attended in the city of Cordoba, Argentina.
In this Chinese newborn baby, we identified a novel microdeletion
and a known missense mutation within the INSR gene, which caused a compound heterozygous mutation.
Von-Hippel Lindau syndrome subtypes and genotype-phenotype correlation VHL VHL mutation type Retinal CNS HB RCC PCC type HB 1 Missense, insertion, + + + - splice site, nonsense, microdeletion
, wide deletion 2A Missense + + - + 2B Missense + + + + 2C Missense - - - + VHL: Von-Hippel Lindau, HB: Hemangioblastoma, CNS: Central nervous system, RCC: Renal cell carcinoma, PCC: Pheochromocytoma