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References in periodicals archive ?
An association between Y chromosome microdeletions and an isodicentric Y chromosome or 46,X,idic(Y)/45,X chromosomal mosaicism has been proposed previously (25, 26).
Such events yield isodicentric Y chromosomes that contain two centromeres, two copies of some genes, and no copies of other genes (Figure 4B).
Many people with these isodicentric Y chromosomes are healthy but infertile; in some cases, they produce enough sperm that they can father children by single-sperm injection techniques.
Medical negligence claims relative to genetics in obstetrical practice are usually not a complex matter of failure--for example, failing to diagnose an isodicentric chromosome, misinterpreting a copy number genome variation, mistaking a gene polymorphism as a disease-causing mutation, and failing to order a microdeletion analysis when a gene sequence is reportedly normal.
I am the mother of a 25-year-old woman with isodicentric chromosome 15, a condition characterized by autism, seizure disorder, sensory processing dysfunction, communication disorder, and other challenges.
DNA was obtained from lymphoblastoid cell lines derived from individuals with previously characterized abnormalities of 15q11-q13 {12 PWS patients with deletions of 15q11-q13 and two patients with isodicentric chromosomes 15 [karyotype 47,XX,+dic(15)(pter>q13:: q13>pter)]} and 16 healthy controls (NCs) from the Coriell Cell Repository maintained by the National Institute of General Medical Sciences.