A summary of 7q interstitial deletions and exclusion mapping of the gene for ß-glucuronidase. (1989)
A summary of 7q interstitial deletions and exclusion mapping of the gene for ß-glucuronidase. (1989)
Localization of the human UbB polyubiquitin gene to chromosome band 17p11.1-17p12.
Webb, G C, Baker, R T, Fagan, K, Board, P G
The chromosomal location of the human ubiquitin genes has been evaluated by in situ hybridization. Because of the conservation of the ubiquitin sequence, coding-region probes cannot distinguish...
Localization of the human UbB polyubiquitin gene to chromosome band 17p11.1-17p12.
Webb, G C, Baker, R T, Fagan, K, Board, P G
The chromosomal location of the human ubiquitin genes has been evaluated by in situ hybridization. Because of the conservation of the ubiquitin sequence, coding-region probes cannot distinguish...
A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.
Fagan, K, Gill, A, Henry, R, Wilkinson, I, Carey, B
Three patients are described with different phenotypes and differing de novo interstitial deletions of the long arm of a chromosome 7. The first patient has a deletion with loss of the proximal...
A new interstitial deletion of 4q (q21.1::q22.1).
A unique case of de novo interstitial deletion of chromosome 4 is described involving loss of band q21. The male newborn had multiple abnormalities including frontal bossing, prominent occiput, low...
An interstitial deletion of chromosome 7(q35).
Fagan, K, Kennedy, C, Roddick, L, Colley, A
We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A...
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
Worthington, S, Colley, A, Fagan, K, Dai, K, Lipson, A H
We report three cases of velocardiofacial syndrome (VCFS) with anal anomalies who have deletions of the 22q11 region and a further case where the proband has VCFS clinically and her father has an...
Partington, M W, Fagan, K, Soubjaki, V, Turner, G
Three families are reported who have a translocation involving 4p16.3. Nine subjects are described with the clinical features of the Pitt-Rogers-Danks (PRD) syndrome confirming pre- and postnatal...