Prenatal diagnosis of mosaic trisomy 13: a case report. Prenatal Diagnosis 1998; 18 (9): 971-4.Eubanks SR, Kuller JA, Amjadi D, Powell CM: Prenatal diagnosis of mosaic trisomy 13: A case report. Prenatal Diagnosis, 18 (9):971-974, 1998....
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 ...
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
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 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...
Women with trisomy X (47,XXX) are reported to be taller than average and to have earlier menopause, but the evidence to support these associations is limited to potentially biased collections of cases reaching medical attention.6In contrast, women with a 45,X chromosome complement or Turner synd...
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 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 ...
when at the stage of a zygote, likely carried the derivative chromosome 12 from this translocation, and a postzygotic mitotic recombination event occurred between the normal paternal chromosome 12 and maternal derivative chromosome 12 to “correct” the partial 3p trisomy and partial deletion of 12p....