Interstitial deletion 1p in a 30 year old woman.

Author:

Petersen M B,Warburg M

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. Chromosomal sublocalisation of human c-myb and cfes cellular oncogenes;Harper, M.E.; Franchini, G.; Love, J.; Ml, Simon; Gallo, R.C.; WongStaal, F.;Nature,1983

2. The proband (fig 1) was born at term to a 32 year old mother and a 36 year old father. An older brother was healthy and the parents were not consanguineous. The pregnancy was complicated by a febrile illness during the first and second months. The birth was uncomplicated, birth weight 3100 g, but at Received for publication,1985

3. Unbanded chromosomes showed a 46, XX karyotype in 1963. Further chromosome analysis was carried out in 1982 at the age of 30 years (fig 2). QFQ banding of chromosomes from peripheral lymphocyte cultures showed a deletion of the short arm of one of the chromosomes 1. The exact breakpoints were determined by chromosome analysis of RBA banded prometaphases using methotrexate synchronised peripheral lymphocyte cultures. The karyotype was 46, XX, del(1)(p22-1p31-2) or46, XX, del(1)(pter-* p31 2:: p221-*>qter). The parents refused to have their chromosomes analysed

4. A large de novo deletion of chromosome 1 was described by Aarskog in 1968.1 This was before the banding era, but it was noted that the deleted segment was a large part of the distal early replicating region, and therefore was most likely a terminal deletion of lp. Hain et a12 reported two unrelated children with terminal lp deletion due to m

5. A large deletion of chromosome No 1 (46, XY,1?-);Aarskog, D.;J Med Genet,1968

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