Partial trisomy 6p
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 48 (1) , 13-16
- https://doi.org/10.1007/bf00273268
Abstract
A case of trisomy 6p21→6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been due to partial 2p monosomy. Comparison with seven other cases of trisomy 6p allowed the delineation of a clinical entity. Direct proof of the localization of HLA genes was given by the presence of three haplotypes in the index patient.Keywords
This publication has 9 references indexed in Scilit:
- Regional mapping of the HLA on the short arm of chromosome 6Clinical Genetics, 1979
- Regional assignment of red cell acid phosphatase locus to band 2p25Human Genetics, 1979
- Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6.Proceedings of the National Academy of Sciences, 1977
- Assignment of the gene for glyoxalase I to region p21→pter of human chromosome 6Cytogenetic and Genome Research, 1977
- Deletion of the short arm of chromosome 2 from a subject with congenital anomaliesCytogenetic and Genome Research, 1977
- Localization of HLA on the short arm of chromosome 6Human Genetics, 1977
- Partial trisomy 6p due to familial translocation t(6;20)(p21;p13)Human Genetics, 1977
- A 6p trisomy detected in a family with a ?giant satellite?Published by Springer Nature ,1975
- A family with a presumptive C-F translocation in five generations.1971