Small terminal deletions of the long arm of chromosome 2: Two new cases
- 1 December 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 53 (4) , 366-369
- https://doi.org/10.1002/ajmg.1320530412
Abstract
We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases. The phenotype associated with small terminal 2q deletions is variable and clearly not always as mild as indicated in previous reports. The abnormality may also be more common than has been assumed.Keywords
This publication has 8 references indexed in Scilit:
- Deletion (2) (q37)American Journal of Medical Genetics, 1994
- Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37)American Journal of Medical Genetics, 1994
- Mouse homologues of human hereditary disease.Journal of Medical Genetics, 1994
- Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boyAmerican Journal of Medical Genetics, 1992
- Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37)American Journal of Medical Genetics, 1989
- Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.Proceedings of the National Academy of Sciences, 1988
- A case of deletion 2q35----qter and a peculiar phenotype.Journal of Medical Genetics, 1984
- Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).Journal of Medical Genetics, 1983