13PatausyndromeSurvivalAutopsyOlfactoryaplasiaTorpedosWe present here a long survival case of a patient with the mosaic form of trisomy 13 who died of aspiration pneumonia at the age of 7聽years and 4聽months. The autopsy revealed olfactory aplasia and fenestration of the septum pellucidum, and ...
Mosaic trisomy 13 on chorionic villi in a fetus with body wall complex: Fortuitous association or pathogenic hypothesis? Prenat Diagn 23:1021-1023, 2003.Doray B, Viville B, Touret Y, et al. Mosaic trisomy 13 on chorionic villi in a fetus with body wall complex: fortuitous association or ...
We report here the rare case of Trisomy 13/monosomy X mosaicism.A 28-year-old women presented for cytogenetic analysis diagnosed with secondary amenorrhoeaShe had all the prominent features of Turner syndrome at presentation.Cytogenetic investigation was performed on lymphocyte chromosomes.The karyotype...
The unbalanced reciprocal translocation involving partial monosomy 9p (9p24→pter) and partial trisomy 13q (13q12→qter) in that report is likely caused by culture artefact during amniocyte culture process. The present case also shows complete cytogenetic discrepancy between cord blood, umbilical cord...
A complex chromosomal mosaic was observed in cultured lymphocytes and skin fibroblasts of a male infant with multiple congenital malformation. The clinical features of the patient overlapped with those of 18p-, 13 trisomy and 18 trisomy syndromes. The ka
The clinical impression was trisomy 13. The baby is not doing well and needs a gastrotomy tube for feeding. Sucking is allright but swallowing is impeded. An MRI showed an anomaly of the corpus callosum. The ophthalmological examination showed no abnormalities. A chromosome study on a 2-day...
Finally, cytogenetic analysis showed the presence of non-mosaic X trisomy (65,XXX), an aneuploidy of sex chromosomes that is rarely detected in horses. This finding was also confirmed by molecular methods, including highly sensitive droplet digital PCR (ddPCR) and microsatellite markers genotyping. ...
The analysis of sex ratios in different variants of trisomy 13 with respect to ascertainment (prenatal diagnosis, miscarriages, liveborn) also does not support an intrauterine selection against males as a cause of a female prevalence among carriers of homologous REA. Thus the data presented in ...
Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with T(13;14) Trisomy 14 Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. We recently studied a 9-year-old female wi...
1.Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines and spring 机译:与成纤维细胞系中检测到的过度生长相关的马赛克三兆癣12 Gasparini Yanca ,Montenegro Marilia M. ,Novo-Filho Gil M. - Cytogenetic and genome research - 2019 2.Prenatal diagnosis of mosaic trisomy 12...