PMID- 11829489
OWN - NLM
STAT- MEDLINE
DCOM- 20020917
LR  - 20061115
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 79
IP  - 2
DP  - 2002 Feb
TI  - Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
PG  - 186-96
AB  - Russell-Silver syndrome (RSS) is a form of congenital short stature characterized 
      by severe growth retardation and variable dysmorphic features. In some RSS 
      individuals, alterations in imprinted genes may be involved because approximately 
      7% of sporadic patients have been observed to have maternal uniparental disomy 
      (mUPD) of chromosome 7. RSS patients with structural abnormalities of chromosome 
      7 have also been described. In these individuals the chromosome rearrangement 
      could disrupt the balance of imprinted genes, contribute to a recessive form of 
      RSS, or lead to haploinsufficiency of a crucial developmental gene product. 
      Because the mechanism and molecular defects on chromosome 7 causing RSS are still 
      unknown, we tested our collection of 77 RSS families for mUPD7 and were able to 
      identify three new cases. We also characterized two RSS patients with de novo 
      cytogenetic abnormalities involving the short arm of chromosome 7. One had a 
      partial duplication [46, XX, dup(7)(p12 p14)] and the second contained a 
      paracentric inversion [46, XY, inv(7)(p14 p21)]. Fluorescence in situ 
      hybridization (FISH) mapping revealed that the breakpoints on 7p14 were localized 
      to the same novel gene, C7orf10, which encompasses >700 kb of DNA. We also 
      identified other transcription units from this immediate region, but all seem to 
      be biallelically expressed when using a somatic cell hybrid assay.
FAU - Nakabayashi, Kazuhiko
AU  - Nakabayashi K
AD  - Department of Genetics, The Hospital for Sick Children, University of Toronto, 
      Toronto, Ontario, M5G 1X8, Canada.
FAU - Fernandez, Bridget A
AU  - Fernandez BA
FAU - Teshima, Ikuko
AU  - Teshima I
FAU - Shuman, Cheryl
AU  - Shuman C
FAU - Proud, Virginia K
AU  - Proud VK
FAU - Curry, Cynthia J
AU  - Curry CJ
FAU - Chitayat, David
AU  - Chitayat D
FAU - Grebe, Theresa
AU  - Grebe T
FAU - Ming, Jeffrey
AU  - Ming J
FAU - Oshimura, Mitsuo
AU  - Oshimura M
FAU - Meguro, Makiko
AU  - Meguro M
FAU - Mitsuya, Kohzoh
AU  - Mitsuya K
FAU - Deb-Rinker, Paromita
AU  - Deb-Rinker P
FAU - Herbrick, Jo-Anne
AU  - Herbrick JA
FAU - Weksberg, Rosanna
AU  - Weksberg R
FAU - Scherer, Stephen W
AU  - Scherer SW
LA  - eng
SI  - GENBANK/AC006023
SI  - GENBANK/AJ297710
SI  - GENBANK/AK021870
SI  - GENBANK/AX048113
SI  - GENBANK/AZ049855
SI  - GENBANK/G67377
SI  - GENBANK/G67378
SI  - OMIM/180860
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Amino Acid Sequence
MH  - Animals
MH  - Body Height/genetics
MH  - Chromosome Aberrations
MH  - *Chromosomes, Human, Pair 7
MH  - Cytogenetic Analysis
MH  - Facies
MH  - Humans
MH  - Hybrid Cells
MH  - In Situ Hybridization, Fluorescence
MH  - Mice
MH  - Molecular Sequence Data
MH  - Sequence Analysis, DNA
MH  - Sequence Homology, Amino Acid
MH  - Syndrome
EDAT- 2002/02/07 10:00
MHDA- 2002/09/18 10:01
CRDT- 2002/02/07 10:00
PHST- 2002/02/07 10:00 [pubmed]
PHST- 2002/09/18 10:01 [medline]
PHST- 2002/02/07 10:00 [entrez]
AID - S0888754302966954 [pii]
AID - 10.1006/geno.2002.6695 [doi]
PST - ppublish
SO  - Genomics. 2002 Feb;79(2):186-96. doi: 10.1006/geno.2002.6695.