[Phenotype and "critical segments" of chromosomes during partial aneuploidy for chromosome 4 in man].
Computerized analysis of sparse matrix, based on the list of involved organs, body parts, extremities, function etc. (total item number about 600) was performed for different cytogenetically identified anomalies of human chromosome 4 (35 cases of 4p-, 32 cases of 4p+, 39 cases of 4q-, 39 cases of 4q+; both published and original data were used). For each of the four types of partial aneusomy, 4 specific enough groups of traits were revealed which had been found in 50% of respective patients, at least. Such "nuclei" of traits were highly similar to those given in comprehensive modern manuals. However, 4p- and 4q- could only be classified as strictly enough delineated chromosomal syndromes. The 4(p14-pter) region was found to be the most likely crucial segment for the Wolf-Hirschhorn syndrome.
Ivanov
V I
VI
Levina
L Ia
LIa
Konstantinova
L M
LM
Zaiarnyĭ
A N
AN
Kuleshov
N P
NP
D000782:Aneuploidy; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D006801:Humans; D010641:Phenotype; D013577:Syndrome
Fenotip i "kriticheskie segmenty" khromosom pri chastichnykh aneuploidiiakh po khromosome 4 u cheloveka.