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Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
(Blackwell MunksgaardFrederiksberg CDinamarca, 2005)
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
(Biomed Central LtdLondonInglaterra, 2013)
Sex-chromosome Variability in Zygodontomys lasiurus (Rodentia, Cricetidae)
(1983-01-01)
Cytogenetic studies were performed on 26 specimens of the rodent Zygodontomys lasiurus (2n=34, 2n=33/34), collected in the State of São Paulo, Brazil. The G- and C-band patterns of mitotic chromosomes were studied and the ...
Síndrome da deleção do braço curto do cromossomo 18: avaliação clínica e citogenômica
(Universidade Federal de São Paulo (UNIFESP), 2016-03-30)
Chromosome 18p deletion syndrome [del(18p)] (OMIM 146390) has been well described in the literature with over 300 patients reported on, but few of them evaluated by cytogenomic techniques. Objective: We studied 12 patients ...
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients
(Funpec-editora, 2011-01-01)
Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% ...
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients
(Funpec-editora, 2011-01-01)
Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% ...
Deletion 5q12: Delineation of a Phenotype Including Mental Retardation and Ocular Defects
(WILEY-BLACKWELL, 2011)
Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of correlating genotype to phenotype and mapping ...
Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function
(Oxford University Press, 2017)
© The Author 2016. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. STUDY QUESTION: Are copy number variations (CNVs) in the pseudoautosomal ...
Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up
(BMC, 2014-08-22)
Background
Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific ...
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy
(Human Genetics, 2017-10-01)
Hereditary neuropathy with liability to pressure palsies (HNPP) and Smith-Magenis syndrome (SMS) are genomic disorders associated with deletion copy number variants involving chromosome 17p12 and 17p11.2, respectively. ...