Congenital heart anomalies can accompany in this syndrome. To the best of our knowledge, this is the first case of mosaic trisomy 14 with an aortopulmonary window to be described in the literature.Yilmaz, Fatma HilalOflaz, Mehmet BurhanTarak, NuriyeBaysal, TamerHüseyin...
孕妇在妊娠25周时再度做羊水穿刺复检,结果培养羊水细胞显示30%异常mosaic trisomy 15,未培养羊水细胞DNA经过QF-PCR检测,排除UPD(15),但证实有父源的镶嵌型三染色体15,而羊水基因芯片aCGH检查则显示有75%异常mosaic trisomy 15,同时未培养羊水细胞经FISH检查显示有45%异常mosaic trisomy 15。超音波检查则是正常。 孕...
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...
Mosaic trisomy 21 accounts for 2–4% of Down's syndrome cases, which are distinct from complete trisomy in that the former can have less severe intellectual and developmental manifestations [24]. Mosaic Turner's syndrome, also known as mosaic X loss, also manifests in a less severe phenotype...
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
Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal p... The peripheral blood had a karyotype of 47,XX,+21[1]/46,XX [39], and FISH analysis on buccal mucosal cells revealed 8.4% (7/83 ...
P= 1.2 × 10−14) (Tables1and2, Fig.2, Supplemental TableS3). Women with 47,XXX had a similar number of pregnancies (mean = 1.9, range 0–10) and no higher frequency of pregnancy loss than 46,XX controls. We also found that women with trisomy X had a lower fluid intelligence (...
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...
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 ...
We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. Materials and Methods A 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age, which revealed a karyo...