For reference, a normal human X chromosome is also shown (X). For the X;22 (case 68) and X;14 (case 4) translocations involving band Xq13, the autosomal protion of the translocation chromosomes is ...

Abnormal chromosomes can present challenges during cell division. A new study shines light on how this dysfunctional process may produce mutational patterns commonly found in cancer cells. Every time ...

Preliminary results of chromosome studies on cultured umbilical-cord-blood leukocytes from a consecutive series of 2159 infants born during a year indicated that gross chromosome abnormalities were ...

A 6-week-old female infant was admitted to the Massachusetts General Hospital because of choking while feeding. The mother and father, 27 and 28 years of age, respectively, were healthy. The pregnancy ...

I still recall my disappointment one day in 2015. I received the tumor DNA sequencing results for one of my patients, whose cancer had spread from her lungs to her brain. I saw not a single genetic ...

DLGAP5 is proposed as a causal gene related to oocyte meiosis disorder for the first time. It expanded the current spectrum of pathogenic genes responsible for the phenotype of oocyte maturation and ...

As an MD-PhD student at Case Western Reserve in the late 1980s, Anthony Wynshaw-Boris watched with fascination as researchers prepared for a journey into uncharted territory. The international Human ...

Abnormalities in the structure of chromosomes within someone’s genetic makeup are called structural chromosomal abnormalities. Robertsonian translocations are very rare structural chromosomal ...

Chronic myeloid leukemia (CML) is a rare blood cancer that develops in the bone marrow. Karyotyping is a genetic technique doctors use to diagnose CML and choose more effective treatments. Karyotyping ...

Cytogenetic technologists analyze chromosomes found in biological specimens such as amniotic fluids, bone marrow, and blood to aid in the study, diagnosis, or treatment of genetic diseases.