Gene: [00.0/RSS] Russell Silver syndrome;
|
COM |
Different research groups reported contradictory conclusions regarding
the chromosome location of the Russell Silver syndrome gene.
[1] Two groups found the identical Chr 17 breakpoint (17q25) in two unrelated patients (Ramirez-Duenas-1992; Midro-1993). [2] Kotzot-1995 found maternal disomy for Chr 7 in 4 of 35 patients with Russell Silver syndrome and predicted the presence of at least one maternally repressed gene on human Chr 7. Later, Nishita-1996 suggested that MEST, the first imprinted gene to be identified on Chr 7 (GEM:07q32/MEST), is involved in the causation of this syndrome." |
|
PAT |
The main features of the Russell Silver syndrome are lateral asymmetry and low-birth-weight dwarfism. In common it is characterized by pre- and postnatal growth retardation." |
|
REF |
PAT,FOG,LIN "Kotzot D &: Hum Mol Genet, 4, N4, 583-587, 1995 COM,ABR,PAT "Midro AT &: Clin Genet, 44, 53-55, 1993 ASS,COM,LOC,PAT "Nishita Y &: Genomics, 36, N3, 539-542, 1996 LIN,COM "Preece MA &: J Med Genet, 34, N1, 6-9, 1997 COM,ABR "Ramirez-Duenas ML &: Clin Genet, 41, 51-53, 1992 |
|
KEY |
devd |
|
CLA |
unknown, basic |
|
LOC |
07 q ? 17 q25 |
|
MIM |
MIM: 180860 |
