Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation

P Gustavsson, G Skeppner, B Johansson, T Berg, L Gordon, A Kreuger, N Dahl, P Gustavsson, G Skeppner, B Johansson, T Berg, L Gordon, A Kreuger, N Dahl

Abstract

A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in situ hybridisation (FISH) studies with 19q specific cosmids showed that the chromosome 19 breakpoint is located between the RYR1 and the XRCC11 loci spanning a physical region of 5 Mb. There is no family history of DBA and the parents and two healthy sibs have normal karyotypes. This is the first report of a balanced translocation associated with DBA and we suggest that the distinct phenotype has resulted from a de novo disruption of a functional gene. DBA can be inherited as an autosomal trait and our observation may indicate a candidate gene for the disorder in the 19q13 region.

References

    1. J Clin Invest. 1995 Aug;96(2):655-6
    1. Genomics. 1994 Oct;23(3):669-84
    1. Genomics. 1995 Sep 20;29(2):533-6
    1. Genomics. 1995 Nov 20;30(2):187-94
    1. Blood. 1996 Mar 15;87(6):2568-72
    1. Cancer Genet Cytogenet. 1996 Jun;88(2):136-40
    1. Br J Haematol. 1996 Sep;94(4):645-53
    1. Cytogenet Cell Genet. 1996;75(4):210-5
    1. Acta Paediatr. 1963 Mar;52:159-60
    1. Am J Med. 1966 Dec;41(6):990-9
    1. Arch Dis Child. 1969 Dec;44(238):757-60
    1. J Pediatr. 1972 Aug;81(2):346-8
    1. J Pediatr. 1974 Oct;85(4):531-3
    1. Scand J Haematol. 1974;13(4):276-80
    1. Adv Pediatr. 1976;22:349-78
    1. Science. 1976 Sep 3;193(4256):899-900
    1. J Clin Invest. 1978 Feb;61(2):489-98
    1. Blood. 1978 Jun;51(6):1125-8
    1. Med J Aust. 1982 Jun 12;1(12):519-21
    1. Am J Pediatr Hematol Oncol. 1983 Spring;5(1):99-101
    1. Blood. 1984 Aug;64(2):348-51
    1. Proc Natl Acad Sci U S A. 1986 May;83(9):2934-8
    1. Hum Genet. 1988 Nov;80(3):224-34
    1. Am J Pediatr Hematol Oncol. 1989 Winter;11(4):380-94
    1. Am J Med Genet. 1990 Feb;35(2):251-6
    1. Blood. 1991 Nov 1;78(9):2211-5
    1. Br J Haematol. 1991 Oct;79(2):316-21
    1. Am J Med Genet. 1991 Sep 15;40(4):482-4
    1. Br J Haematol. 1992 Dec;82(4):640-7
    1. Blood. 1993 Aug 1;82(3):744-51
    1. Genes Chromosomes Cancer. 1993 Sep;8(1):60-2
    1. J Med Genet. 1993 Sep;30(9):713-27
    1. Br J Haematol. 1993 Jul;84(3):515-20
    1. Am J Pediatr Hematol Oncol. 1994 Aug;16(3):260-5
    1. Nat Genet. 1995 Dec;11(4):422-7

Source: PubMed

Sponsorzy i współpracownicy

Warunki medyczne

Interwencje lekowe

3
Subskrybuj