Mosaic trisomy 1q: a recurring chromosome anomaly that is a
Objective: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose because of tissue-limited mosaicism. This study aimed to further characterize the prenatal and post-natal findings associated with this anomaly, including the first reported chromosomal microarray finding.
Mosaic trisomy 1q: The longest surviving case - PubMed
We present the longest known surviving case of a male infant with a mosaic complete trisomy 1q. Born at 39 weeks of gestation with respiratory distress, his weight was 3,330 g (25th centile); he had micrognathia, a posterior cleft of palate, abnormal ears …
Mosaic trisomy of chromosome 1q in human brain tissue …
Our findings provide evidence for a previously unrecognized PMG-specific methylation class and a brain mosaic chromosomal rearrangement affecting 1q in a subgroup of PMG patients. 1q trisomy associated with focal or hemispheric PMG, absence of hemimegalencephaly, early-onset severe focal epilepsy and developmental delay
Mosaic trisomy of chromosome 1q in human brain tissue
We recently provided evidence that epilepsy-associated structural brain lesions can be classified based on genomic DNA methylation patterns. Here, we analyzed 26 PMG patients employing array-based DNA methylation profiling on formalin-fixed paraffin-embedded material.
Mosaic trisomy 1q: The longest surviving case - Patel - 2009
Jul 16, 2009 · We present the longest known surviving case of a male infant with a mosaic complete trisomy 1q. Born at 39 weeks of gestation with respiratory distress, his weight was 3,330 g (25th centile); he had micrognathia, a posterior cleft of palate, abnormal ears and left thumb, syndactyly, and an absent corpus callosum.
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, …
Jan 31, 2016 · Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy …
Mosaic trisomy 1q: a recurring chromosome anomaly that is a …
Apr 24, 2017 · Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose because of tissue-limited mosaicism. This study aimed to further characterize the prenatal and post-natal findings associated with this anomaly, including the first reported chromosomal microarray finding.
Mosaic trisomy 1q: The longest surviving case - Patel - 2009
Abstract We present the longest known surviving case of a male infant with a mosaic complete trisomy 1q. Born at 39 weeks of gestation with respiratory distress, his weight was 3,330 g (25th centil...
Jul 16, 2020 · We recently provided evidence that epilepsy-associated structural brain lesi ons can be classified based on genomic DNA methylation patterns. Here we analyzed 26 PMG patients employing array-based DNA- methylation profiling on …
Mosaic Trisomy 1q: The Longest Surviving Case | Request PDF
Aug 1, 2009 · We present the longest known surviving case of a male infant with a mosaic complete trisomy 1q. Born at 39 weeks of gestation with respiratory distress, his weight was 3,330 g (25th centile);...