Ring chromosomes in man, in association with congenital abnormalities, have been reported involving a chromosome in the I7-I8 group (Genest, Leclerc, and Auger, I963; Gropp, Jussen, and Ofteringer, I964; Lucas, Kemp, Ellis, and Marshall, I963; Wang, Melnyk, McDonald, Uchida, Carr, and Goldberg, I962), a chromosome in the X-6-I2 group which is probably not an X (Turner, I963), a member of the I3...

cytogenetic studies were performed on 150 cases of down's syndrome (ds) in iran. the standard trisomy 21 was found in 132 (88 % ) and translocation-trisomy 21 (+21) in 18 (12%) patients, i.e., t(21,21) in 1(0.63%) and mosaicism in 17(11.33%) cases. the comparison of the frequencies for mosaicism between different populations such as denmark, hungary, egypt, iraq, india, australia and iran ...

We previously reported on a 43-year-old patient with Wiskott-Aldrich syndrome (WAS) who experienced progressive clinical improvement and revertant T-cell mosaicism. Deletion of the disease-causing 6-bp insertion was hypothesized to have occurred by DNA polymerase slippage. We now describe 2 additional patients from the same family who also had revertant T lymphocytes that showed selective in vi...

before and after birth, mental retardation, developmental delay, cardiac anomalies, minor anomalies of genitalia in boys, abnormal skin pigmentation and dysmorphic features. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. In particular, an international consensus st...

Key content Fetal placental mosaicism, of which confined mosaicism is a subtype, occurs in 2–3% pregnancies. Confined may lead to false positive result on non-invasive prenatal testing (NIPT) for common aneuploidies. The risk chorionic villus sample (CVS) following NIPT 2, 4, 22 and 59% trisomy 21, 18, 13 45, X respectively. Following the absence significant fetal structural anomaly (FSA), care...

A 15-year-old girl was investigated because of ambiguous genitalia. Her chromosome studies showed a 45, X/45, Xdic(Yq) mosaicism. The identity of the dicentric Y chromosome was demonstrated by its typical fluorescent banding patterns. Histological evidence of mixed gonadal dysgenesis with intragonadal tumour was observed, confirming the occurrence of gonadoblastoma associated with mosaicism in ...

Fertilized and unfertilized mouse eggs were examined by scanning and transmission electron microscopy for evidence of mosaicism in the organization and concanavalin A-binding properties of their surface membranes. No obvious quantitative mosaicism in concanavalin A binding was noted. The egg membrane was microvillous over most of its surface, but was smooth in the region overlying the 2nd metap...

background: a decrease in aneuploidy rate following a prolonged co-culture of human blastocysts has been reported. as co-culture is not routinely used in assisted reproductive technology, the present study aimed to evaluate the effect of the prolonged single culture on the rate of diploid cells in human embryos with aneuploidies. materials and methods: in this cohort study, we used fluorescence...