A healthy human male has 46,XY chromosome complement and female has 46,XX in each and every nucleated cell. The study of total count and structural analysis of these chromosome is called as Karyotype. Karyotype can be practically done from any live tissue with growing cells, but for need and feasibility mostly karyotype is recommended by clinicians in Blood, Bone marrow, Amniotic fluid, Chorionic Villi, Cord blood, Product of conception, tissue biopsy, etc.  Any of this is collected in sterile container and transported to processing laboratory and further short term culture is undertaken. After the culture for a period of time (72 hours in blood and 15-21 days in other tissues) cells are arrested at M-phase of cell cycle by addition of colchicin so maximum chromosome bearing cells are harvested for analysis.

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Post harvesting and fixation of cells on slide, a partial digestion is carried out using trypsin-EDTA solution. This process develops bands on chromosome, further based on size and banding pattern chromosome are placed in respective group and compared with international standard idiogram. Thus the process is tedious and needs expertise to analyze and report finer variation in chromosome.

Need: Following are the clinical situation where in Karyotype analysis is recommended

  • Congenital anomalies
  • ambiguous genetelia
  • primary amenorrhea
  • male and female infertility
  • idiopathic mental retardation
  • Symptoms of standard chromosomal disorders like Down’s, Edwards, Patau, Klinefelter, etc.
  • High risk pregnancy
  • double-triple marker positive
  • Any anomalies observed during ultrasonography
  • Blood cancer

Common anomalies observed: There are many chromosomal anomalies observed in population. Deletion, Duplication, Inversion, Translocation, isochromosomes, etc. which may lead to clinical manifestation of broad spectrum. Thus it becomes very important and necessary tool for clinicians in most specialization like Pediatrician, Obs-Gynaec, Oncology, Neurology, Fetal medicine and other specialized sectors.

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