Work

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Year: 1992

Type: article

Abstract: Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (> 850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.

Source: Europe PMC (PubMed Central)

Authors: D I Wilson, I E Cross, J A Goodship, J Brown, P J Scambler, H H Bain, J F Taylor, K Walsh, A Bankier, J Burn

Institution: Newcastle University

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: green

OpenAlex ID: W1554152197

FWCI: 4.222

Cites: 23

Cited by: 106

Related to: 10