Work

A case of inverted insertion assessed by R and G banding

Year: 1982

Type: article

Abstract: Cytogenetic studies in a 2-year-old boy referred to our laboratory for developmental delay showed an unusual karyotype with a three break rearrangement. R and G banding were both necessary to determine the exact nature of the rearrangement which is described as 46, XY,inv ins(16;3)(q22;p26p13). Several features coincide with the reported description of another patient where 3p26 was missing, and the coincidence is explained as a position effect.

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.19.2.148

Authors: Miguel A De Arce, Elizabeth Law, L Martin, Joseph G Masterson

Institutions: University College Dublin, University Hospital Limerick

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2036874268