ABSTRACT
Identification of the gender of hair represents relevant medicolegal evidence in criminal cases. The efficacy of Fluorescence In Situ Hybridization (FISH) using chromosome X and Y centromeric probes was tested to determine its ability to identify correctly the gender of hair. In this preliminary study, FISH correctly identified the gender of cells from hair as old as 26 days. The technique is accurate, rapid, sensitive, easily performed, and readily available. As a forensic laboratory technique, FISH shows great promise.
Subject(s)
Forensic Medicine/methods , Hair/chemistry , In Situ Hybridization, Fluorescence/methods , Sex Determination Analysis/methods , Female , Humans , Male , X Chromosome/chemistry , X Chromosome/genetics , Y Chromosome/chemistry , Y Chromosome/geneticsABSTRACT
Complex chromosome rearrangements (CCR) are rare structural rearrangements. Currently six cases of prenatally diagnosed balanced de novo CCR have been described. We present two new cases of prenatally ascertained balanced de novo CCR. In the first case, an amniocentesis revealed a balanced de novo three-way CCR involving chromosomes 5, 6, and 11 with a pericentric inversion of chromosome 5 [four breaks]. In the second case, a balanced de novo rearrangement was identified by amniocentesis which involved a reciprocal translocation between chromosomes 3 and 8 and a CCR involving chromosomes 6, 7, and 18 [six breaks]. The use of whole chromosome painting helped elucidate the nature of these rearrangements. A review of the postnatally ascertained cases suggests that most patients have congenital anomalies, minor anomalies, and/or developmental delay/mental retardation. In addition, there appears to be a relationship between the number of chromosome breaks and the extent of phenotypic effects. The paucity of information regarding prenatally diagnosed CCR and the bias of ascertainment of postnatal CCR cases poses a problem in counseling families.
