Abstract
We describe a female infant who presented with hypotonia and developmental delay. Her karyotype showed a de novo balanced translocation between the X chromosome and chromosome 13, with breakpoints at Xq13 and 13p11. The normal X was late replicating in all cells examined. The cause of this patient's abnormal phenotype is discussed.
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- Hodgson S. V., Neville B., Jones R. W., Fear C., Bobrow M. Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum Genet. 1985;71(3):231–234. doi: 10.1007/BF00284581. [DOI] [PubMed] [Google Scholar]
- Madan K. Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet. 1983;63(3):216–221. doi: 10.1007/BF00284652. [DOI] [PubMed] [Google Scholar]
- Murray J. M., Davies K. E., Harper P. S., Meredith L., Mueller C. R., Williamson R. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature. 1982 Nov 4;300(5887):69–71. doi: 10.1038/300069a0. [DOI] [PubMed] [Google Scholar]
- Scheres J. M., Merkx G. F., Hustinx T. W. Prometaphase banding of human chromosomes with basic fuchsin. Hum Genet. 1982;61(1):8–11. doi: 10.1007/BF00291322. [DOI] [PubMed] [Google Scholar]
- Skibsted L., Westh H., Niebuhr E. X long-arm deletions. A review of non-mosaic cases studied with banding techniques. Hum Genet. 1984;67(1):1–5. doi: 10.1007/BF00270550. [DOI] [PubMed] [Google Scholar]