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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants
Purpose:To evaluate the clinical utility of chromosomal microarrays for prenatal diagnosis by a prospective study of fetuses with abnormalities detected on ultrasound.Methods:Patients referred forExpand
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A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1
Otosclerosis is a common form of hearing impairment among white adults with a prevalence of 0.3–0.4%. It is caused by abnormal bone homeostasis of the otic capsule that compromises free motion of theExpand
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Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13. Despite the relativeExpand
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Belgian MicroArray Prenatal (BEMAPRE) database
First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
We report a Belgian boy presenting with severe growth delay, microcephaly and several immune defects suggestive of Bloom Syndrome, a rare genetic autosomal recessive disorder caused by germlineExpand