Chromosomal Abnormalities in Regions 8q22 and 13q32 Associated with Different Disorders in an Iranian Family

Author

Medical Genetics Laboratory, Alzahra University Hospital, Medical Sciences University of Isfahan,

Abstract

Chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. In human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .Our proband is an infant who had died 4 hours after birth due to a variety of abnormalities. Her parents referred to counseling centerfor their next pregnancy. The parents were clinically normal but there was some noticeable history of diseases in their familial pedigree. Combination of the infant's phenotypes and the family pedigree history, made chromosomal abnormality as a possible diagnosis. Cytogenetic analysis was performed on parents of the dead infant, proceeded with the chromosomal analysis of maternal grandparents of the infant. The man had a normal karyotype but the woman's karyotype was [46, XX, t (8:13) (q22:q32), add (15) (p.s)] which had inherited from her parents. This is the first report of rearrangement in region 8q22 and 13q23. This is a novel study due to the chromosomal bands are involved in translocation between chromosome 8 and 13. Moreover, the addition in chromosome 15 is a noticeable feature that its probable role in infant’s abnormalities should be considered.