Gene: [04p163/WHCR] Wolf-Hirschhorn syndrome candidate 1; Wolf-Hirschhorn syndrome (MIM:194190); [WHS WHSC1 ]
|
HET |
[1] According to Campbell-1989 and Ivens-1990, patients with
Wolf-Hirschhorn syndrome have an intersticial deletion of segment
4p16.1. It is assumed that the specificity of the clinical picture may
be accounted for by the absence of a homeosis gene MSX1
(GEM:04p161/MSX1). This hypothesis has not
yet been confirmed,
therefore the HGM Catalogue describes the locus WHCR as independent
one identified by cytogenetic methods.
[2] Fryns-1989 described a new syndrome similar to WHS but different in some features, with deletion in 4p15.3-p14 and undamaged segment 4p16." |
|
REF |
LOC,LIN,PAT "Albietz &: AJHG, 41, A112, 1987 LIN,CYG,PAT "Campbell &: AJHG, 45, A179, 1989 COM "Fryns &: Ann Genet, 32, N1, 59-61, 1989 LOC,CYG,PAT "Greenberg &: AJHG, 45, A76, 1989 LOC,LIN,PAT "Gusella JF &: Nature, 318, 75-78, 1985 HIS,PHE,PAT "Hirschhorn &: Humangenetik, 1, 479-482, 1965 LIN,CYG,PAT "Ivens A &: Hum Genet, 84, 473-476, 1990 LOC,LIN,PAT "MacDonald ME &: Genomics, 1, 29-34, 1987 LOC,LIN,PAT "McKeown C &: J Med Genet, 24, 410-412, 1987 LOC,LIN,PAT "Serville &: Ann Genet, 30, N3, 170-174, 1987 GEN,SEQ,LOC,EXP,MOP "Stec I &: Hum Mol Genet, 7, 1071-1082, 1998 HIS,PHE,PAT "Wolf &: Humangenetik, 1, 397-413, 1965 |
|
KEY |
devd |
|
CLA |
unknown, basic |
|
LOC |
04 p16.3 |
|
MIM |
MIM: 602952 |
|
SYN |
WHS WHSC1 |
