Couples with multiple miscarriages are at risk for carrying a balanced translocation since they may produce unbalanced gametes. Chromosomal imbalances may lead to spontaneous abortions, or an offspring with multiple congenital anomalies. This report emphasizes the importance of the cytogenetic investigations in couples with recurrent spontaneous abortions. A couple was referred for cytogenetic ...

Robertsonian translocations (RTs) are very common balanced structural chromosome rearrangements in humans. Due to alterations the segregation pattern and formation of unbalanced gametes embryos, carriers RTs have a significant risk reproductive failure. For over 30 years, fluorescent situ hybridization (FISH) has been used for preimplantation genetic testing chromosomal rearrangement (PGT-SR) R...

P artial trisomy 16p is a rare chromosomal anomaly in newborns: of the fewer than 30 carrier patients so far reported, most were born to parents with a balanced translocation involving the p arm of chromosome 16. Pure partial trisomy 16p has been reported in seven patients, three of whom (all showing behavioural problems with autistic traits) carried a tandem duplication of the (16)(p11.2–p12) ...

background: acute lymphoblastic leukemia (all) is the most common form of childhood cancer leading to cancer-related death in children. most infants with all harbor recurring structural chromosomal rearrangements that are important initiating events in leukemogenesis but are insufficient to explain the biology and heterogeneity of the disease. mixed-lineage leukemia-rearrangement (mll-rearrange...

Robertsonian translocations (ROBs) have an estimated incidence rate of 1/1000 births, making this type of rearrangement the most common structural chromosomal abnormalities seen in the general population. In this study, we reports 872 cases of ROBs from 205,001 specimens karyotyped postnatally in a single accredited laboratory in China, including 583 balanced ROBs, 264 unbalanced ROBs, 9 mosaic...

Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. A...

Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a famil...