Chromosomal abnormalities in Fanconi anaemia

ABSTRACT

A female child born to consanguineous parents was investigated for multiple congenital anomalies including microcephaly, short neck, high arched palate, ventricular septal defect [VSD],polydactyly and bilateral simian creases. She developed severe anaemia at 4-6 weeks. Her bone marrow biopsy was suggestive of acute lymphoblastic leukaemia. Karyotype analysis of her peripheral blood showed increased chromosomal breakages, hypo- and hyperdiploidy and fragility [fra X]. In addition to gaps, breaks exchanges, ring chromosome, translocations [dicentric, tricentric] and a characteristic nonrandom telomeric association of chromosomes [TAS] were also observed. Abnormalities of chromosomes 1, 3 and 9 were more frequent than other autosomes. The proband died at the age of 1 year and 5 months