Chromosome imbalance, normal phenotype, and imprinting.
Open Access
- 1 September 1990
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (9) , 582-587
- https://doi.org/10.1136/jmg.27.9.582
Abstract
A duplication of the sub-bands 1q42.11 and 1q42.12 was found in a boy and his mother. The proband has short stature (around the 10th centile) but a normal phenotype and psychomotor development. His mother is also asymptomatic. We found 30 published cases of normal subjects with an imbalance of autosomal euchromatic material. In these cases the imbalance involved either only one G positive band or a G positive and a G negative band. Thus the absence of a phenotypic effect cannot always be ascribed to the deficiency in the G positive bands of coding DNA. Moreover, in some cases, the method of transmission of the chromosome abnormality was such that an imprinting effect could be postulated.Keywords
This publication has 35 references indexed in Scilit:
- Proximal 15q variant with normal phenotype in three unrelated individualsClinical Genetics, 2008
- An unusual variant chromosome 9 with an extra C-negative, G-dark segment in the short armClinical Genetics, 2008
- Sibs with tetrasomy 18p born to a mother with trisomy 18p.Journal of Medical Genetics, 1989
- Incidence of 15q deletions in the Angelman syndrome: A survey of twelve affected personsAmerican Journal of Medical Genetics, 1989
- The association of Angelman's syndrome with deletions within 15q11-13.Journal of Medical Genetics, 1989
- CpG islands as gene markers in the vertebrate nucleusTrends in Genetics, 1987
- Deletions of proximal 15q without Prader‐Willi syndromeAmerican Journal of Medical Genetics, 1987
- A rare non-heterochromatic 9p+ variant in two amniotic fluid cell culturesPrenatal Diagnosis, 1984
- Familial Retinoblastoma and Chromosome 13 Deletion Transmitted via an Insertional TranslocationScience, 1981
- Origin of a small metacentric chromosome: Familial and cytogenetic evidenceClinical Genetics, 1975