[Dissection and cytogenetic localization of the phenotypes of the 5p deletion syndrome].
OBJECTIVE
To classify the phenotypes of the short arm of chromosome 5 (5p) deletion syndrome and to localize their corresponding regions in the human genome.


METHODS
A hundred and six patients, together with most of their parents and sibs, were analysed both cytogenetically and clinically. The dissection of the syndrome and cytogenetic localization of each phenotype was made by relating the clinical data to the breakpoints involved in the deletions.


RESULTS
The 5p deletion syndrome was classified into 8 types based on the combination of the clinical data and high-resolution banding analysis.


CONCLUSIONS
The dissection of the "5p deletion syndrome", a term with refined concept suggested by us, and the cytogenetic localization of each distinct phenotype will provide the clear cut criteria for clinical and cytogenetic diagnosis of the 5p-patients, as well as the candidate regions for positional cloning of the gene(s) repossible for the phenotypes.
Dan
M
M
Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005.
Niebuhr
A
A
Zhang
X
X
Zhang
X
X
Gao
C
C
D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000145:classification / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D010641:Phenotype; D009626:Terminology as Topic