Recent advances in chromosome breakage syndromes and their diagnosis.

Chromosome instability is a characteristic cytogenetic feature of a number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders. They are characterized by susceptibility to chromosomal breakages, increased frequency of breaks and interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. These diseases are a group of genetic disorders sharing a number of features. They are all autosomal recessive, show an increased tendency for chromosomal aberrations and to develop malignancies. The principal diseases in this group having a diverse etiology and clinical manifestations include Fanconi anemia (FA), ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), Bloom syndrome (BS), xeroderma pigementosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). The underlying defect in these syndromes is the inability to repair a particular type of DNA damage. A number of repair disorder phenotypes are caused by more than one gene. The diagnosis of these syndromes is made by the characteristic clinical features specific to each disease, but the definitive diagnosis is achieved by laboratory investigations such as cytogenetic, biochemical and molecular methods. The importance of prenatal diagnosis and our experience are discussed in this article.

report on three cases of Bloom's syndrome or congenital telangiectatic erythema and stunted growth

Bloom's syndrome is a rare autosomal recessive syndrome characterized by telangiectatic erythema of face and back of the hands, short stature, distinctive facies, abnormal immune response, and predisposition to malignancy, especially leukemia. Chromosomal abnormalities are hallmarks of the disorder and a high frequency of sister chromatid exchanges and quadriradial configurations in lymphocytes are virtually diagnostic. Approximately 110 cases have been reported throughout the world up to 1983