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Mechanisms of ring chromosome formation, ring instability and clinical consequences
BackgroundThe breakpoints and mechanisms of ring chromosome formation were studied and mapped in 14 patients.MethodsSeveral techniques were performed such as genome-wide array, MLPA (MultiplexExpand
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Detection of Hidden Y Mosaicism in Turner's Syndrome: Importance in the Prevention of Gonadoblastoma
UNLABELLED The presence of Y chromosome fragments in patients with Turner's syndrome (TS) is known to increase the risk of gonadoblastoma. The investigation of Y sequences is usually performed onlyExpand
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Homozygosity mapping of the Werner syndrome locus (WRN).
Werner syndrome (WS) is an autosomal recessive disorder characterized by the early onset of several age-related diseases. The locus for this disease was recently mapped to 8p12. We studied 27 WSExpand
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Pure duplication 1q41‐qter: Further delineation of trisomy 1q syndromes
Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flatExpand
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Ring chromosome instability evaluation in six patients with autosomal rings.
Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigatedExpand
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Duplication 9p and their implication to phenotype
BackgroundTrisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangementsExpand
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Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography
Congenital heart disease (CHD) is the most common birth defect and the leading cause of mortality in the first year of life. In fetuses with a heart defect, chromosomal abnormalities are veryExpand
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Clinical and cytogenomic findings in OAV spectrum
The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highlyExpand
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A novel de novo mutation in MYT1, the unique OAVS gene identified so far
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by hemifacial microsomia associated with ear, eyes and vertebrae malformations showing highly variable expressivity.Expand
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Homozygous and compound heterozygous mutations at the Werner syndrome locus.
The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder. The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family. Four distinct mutations wereExpand
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