[Genetic determination of Wolf-Hirschhorn syndrome ].
Characteristic, clinical features, typical for Wolf-Hirschhorn syndrome (WHS) were presented in the article. It is caused by partial deletion of the short arm of chromosome 4. The authors paid special attention to cytogenetic and molecular diagnostics of WHS. We mentioned some information concerning the search for the genes responsible for WHS features. Starting from making a connection between the syndrome phenotype and cytogenetic abnormalities, through gradual shortening of the length of the critical region WHSCR (finally up to 165 kb), and sequencing it, at least 2 genes (WHSC1 and WHSC2) were identified.
Gutmajster
Ewa
E
Katedry i Zakładu Biologii Molekularnej i Genetyki Medycznej Slaskiej Akademii Medycznej w Katowicach.
Rokicka
Anna
A
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D006609:High Mobility Group Proteins / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins; D013577:Syndrome; D035602:Transcriptional Elongation Factors
D002352:Carrier Proteins; D006609:High Mobility Group Proteins; C120899:NELFA protein, human; D011506:Proteins; D012097:Repressor Proteins; D035602:Transcriptional Elongation Factors; D011495:Histone-Lysine N-Methyltransferase; C419586:NSD2 protein, human
Uwarunkowanie genetyczne zespołu Wolfa-Hirschhorna.