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Clinical and Cytogenetic Diversity in Fanconi's Anaemia

Overview
Journal J Med Genet
Specialty Genetics
Date 1984 Jun 1
PMID 6431107
Citations 7
Authors
M Hulten
J Mann
A M Taylor
Affiliations
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Abstract

Abnormally high levels of spontaneous and mitomycin C or diepoxybutane induced chromosome breakage were observed in lymphocytes from eight out of nine previously undescribed patients clinically diagnosed as having Fanconi's anaemia. The results suggest that the combination of spontaneous and induced chromosome breakage is a good aid in the differential diagnosis and we suggest that increased chromosome breakage is pathognomonic for this recessive disorder. It is, however, not possible to demonstrate consistently raised levels of induced chromosome breakage in obligate carriers. The patient who had normal levels of chromosome breakage had an atypical haematological picture and may suffer from a disease genetically different from Fanconi's anaemia.

Citing Articles

Body proportions in Fanconi anemia heterozygotes.

Mohan S, Lakshminarayanan P, Sowmya P, Venkatadesikalu M, Pushpa V Indian J Pediatr. 2001; 67(11):797-801.

PMID: 11216377 DOI: 10.1007/BF02726221.

Spontaneous 6-thioguanine-resistant lymphocytes in Fanconi anemia patients and their heterozygous parents.

Vijayalaxmi , Wunder E, SCHROEDER T Hum Genet. 1985; 70(3):264-70.

PMID: 4018791 DOI: 10.1007/BF00273454.

Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes.

Dallapiccola B, Porfirio B, Mokini V, Alimena G, Isacchi G, Gandini E Hum Genet. 1985; 69(1):62-5.

PMID: 3967890 DOI: 10.1007/BF00295530.

Cytogenetic analyses utilizing various clastogens in two sibs with Fanconi anemia, their relatives, and control individuals.

Gebhart E, Kysela D, Matthee H, Nikol M Hum Genet. 1985; 69(4):309-15.

PMID: 3921453 DOI: 10.1007/BF00291647.

Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment.

MOUSTACCHI E, Papadopoulo D, Diatloff-Zito C, Buchwald M Hum Genet. 1987; 75(1):45-7.

PMID: 3804331 DOI: 10.1007/BF00273837.

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