A prospective cytogenetic study of 36 cases of DiGeorge syndrome

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

A prospective cytogenetic study of 36 cases of DiGeorge syndrome

Am J Hum Genet. 1992 Nov;51(5):957-63.

Authors

D I Wilson¹, I E Cross, J A Goodship, J Brown, P J Scambler, H H Bain, J F Taylor, K Walsh, A Bankier, J Burn, et al.

Affiliation

¹ Division of Human Genetics, University of Newcastle upon Tyne, U.K.

PMID: 1415264
PMCID: PMC1682842

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Child
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 22*
DiGeorge Syndrome / genetics*
Female
Humans
Male
Monosomy*
Prospective Studies