ABSTRACT
Chromosome microarray analysis (CMA) has become the first-tier testing for chromosomal abnormalities and copy number variations (CNV). This review described the clinical validation of CMA, the development and updating of technical standards and guidelines and their diagnostic impacts. The main focuses were on the development and updating of expert consensus, practice resources, and a series of technical standards and guidelines through systematic review of case series with CMA application in the literature. Expert consensus and practice resource supported the use of CMA as the first-tier testing for detecting chromosomal abnormalities and CNV in developmental and intellectual disabilities, multiple congenital anomalies and autism. The standards and guidelines have been applied to pre- and postnatal testing for constitutional CNV and tumor testing for acquired CNV. CMA has significantly improved the diagnostic yields but still needs to overcome its technical limitations and face challenges of new technologies. Guiding and governing CMA through expert consensus, practice resource, standards and guidelines in the United States has provided effective and safe diagnostic services to patients and their families, reliable diagnosis on related genetic diseases for clinical database and basic research, and references for clinical translation of new technologies.
Subject(s)
Child , Humans , Chromosome Aberrations , Chromosomes , DNA Copy Number Variations , Developmental Disabilities/genetics , Intellectual Disability/genetics , Microarray Analysis , United StatesABSTRACT
Objective To explore the clinical outcomes and complications of the Ilizarov technique for the treatment of femoral infec-tious ununtied fracture and bone defect.Methods A total of 40 patients with femoral infectious ununtied fracture or bone defect were admit-ted into our department from July 2006 to September 2012.After radical debridement,patients were given osteotomy and Ilizarov external fix-ation,and distraction osteogenesis were used in the treatment of bone defects.And the clinical effects and complications of the treatment were evaluated.Results All of the patients were followed up for 12 ~32 months (24.5 months averagely).Totally 39 patients of them acquired bone healing,and the mean healing time was 15.5 months (12 ~26 months).The knee joint range of motion of 32 patients were obviously decreased after operation (P =0.031).There were 10 cases of partial hip joint range of motion decrease,22 cases of leg length discrepancy (more than 1.1 cm),1 case of Iatrogenic vascular injury,and 10 cases required autologous cancellous bone graft.Pin loosening,deep infec-tion,clubfoot deformity,and deep vein thrombosis or bleeding were founded in parts of the patients.Conclusion Ilizarov technique can ac-quire success in the treatment of femoral infectious ununtied fracture and bone defect,but it has many complications.
ABSTRACT
Objective: To develop a molecular screening test for genetic defects on hearing loss related genes has significant impacts on early identification of hereditary hearing loss and genetic susceptibility to aminoglycoside ototoxicity. Early identification of pre-lingual hearing loss is very important for patient's language development, academic achievement, and social skill. Two common mutations, the 235delC in GJB2 gene and the mutation A1555G in mitochondrial DNA, are included in the newly developed screening panel for Chinese population. Methods: A molecular genetic assay, based on fluorescent labeled multiplex PCR and automatic DNA fragment analyzing techniques, was developed to detect both mutations simultaneously. Results: This assay was able to detect both mutations from patient's samples, and pooled DNA tests, as well as suitable to detect mutation from the DNA extracted from dried blood spot and buccal swab. Conclusion: This assay could be a useful tool for newborn screening and carrier screening for the hereditary hearing loss for the Chinese population.
ABSTRACT
SUMMARY Constitutional full trisomy 21 is a common disorder in which abnormal spermatogenesis has been previously described. However, constitutional mosaic trisomy 21 in an otherwise normal but infertile male has not been explored. We report a case with low level mosaic trisomy 21 in a non-syndrome but azoospermic patient. We also propose that the patient's azoospermia may be related to the constitutional mosaic trisomy 21 and thus resulting in a late onset of testicular failure.