Work

A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).

Year: 1975

Type: article

Abstract: A case of partial trisomy 9 is described, conforming that this will produce a recognizable syndrome of a characteristic facies with deep-set eyes and an unusual shape of the nose. Failure of secondary sexual characteristics to develop appears to be a feature in adults. In this case the mother had a balanced translocation between chromosomes 1 and 9 and must have, in addition, had a non-disjunction of her normal and her deleted No. 9 in order to produce the unbalanced state in her daughter.

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.12.3.310

Authors: M K Mason, D A Spencer, A Rutter

Institutions: University of Wisconsin–Madison, Pontifícia Universidade Católica do Paraná, Universidade Federal do Paraná

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: W2160320844