Menkes syndrome in a girl with X‐autosome translocation
- 1 February 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 26 (2), 503-510
- https://doi.org/10.1002/ajmg.1320260230
Abstract
We report on a girl with Menkes syndrome (M.S.) and X‐2 reciprocal translocation. We conclude that the probable locus for M.S. gene is at band Xql3. This case and other previous case reports of X‐linked disorders in females suggest that chromosome analysis is indicated in all females who present with manifestations of a known X‐linked lethal condition in order to detect a possible associated balanced X‐autosome translocation.Keywords
This publication has 12 references indexed in Scilit:
- Contiguous gene syndromes: A component of recognizable syndromesThe Journal of Pediatrics, 1986
- Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophyNature, 1985
- Linkage studies in Menkes' disease The Xg blood group system and C‐banding of the X chromosomeAnnals of Human Genetics, 1984
- Aarskog syndrome: Full male and female expression associated with an X‐autosome translocationAmerican Journal of Medical Genetics, 1984
- X-Autosome translocations: Cytogenetic characteristics and their consequencesHuman Genetics, 1982
- A case of partial trisomy 17 resulting from X-autosomal translocation.Journal of Medical Genetics, 1979
- Clinical and biochemical aspects of trichopoliodystrophyAnnals of Neurology, 1979
- Reinvestigation of two X/autosome translocations: segregation in cell hybridsCytogenetic and Genome Research, 1978
- Spreading of inactivation in an (X;14) translocationAmerican Journal of Medical Genetics, 1978
- Fluorescence analysis of late DNA replication in human metaphase chromosomesSomatic Cell and Molecular Genetics, 1975