PMID- 7485157
OWN - NLM
STAT- MEDLINE
DCOM- 19951130
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 57
IP  - 5
DP  - 1995 Nov
TI  - Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion 
      of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a 
      region of chromosome 21 important for Down syndrome.
PG  - 1074-9
AB  - We set out to define the holoprosencephaly (HPE) critical region on chromosome 21 
      and also to determine whether there were human homologues of the Drosophila 
      single-minded (sim) gene that might be involved in HPE. Analysis of somatic cell 
      hybrid clones that contained rearranged chromosomes 21 from HPE patients defined 
      the HPE minimal critical region in 21q22.3 as D21S113 to qter. We used 
      established somatic cell hybrid mapping panels to map SIM2 to chromosome 21 
      within subbands q22.2-q22.3. Analysis of the HPE patient-derived somatic cell 
      hybrids showed that SIM2 is not deleted in two of three patients and thus is not 
      a likely candidate for HPE1, the HPE gene on chromosome 21. However, SIM2 does 
      map within the Down syndrome critical region and thus is a candidate gene that 
      might contribute to the Down syndrome phenotype.
FAU - Muenke, M
AU  - Muenke M
AD  - Children's Hospital of Philadelphia, PA 19104-4399, USA.
FAU - Bone, L J
AU  - Bone LJ
FAU - Mitchell, H F
AU  - Mitchell HF
FAU - Hart, I
AU  - Hart I
FAU - Walton, K
AU  - Walton K
FAU - Hall-Johnson, K
AU  - Hall-Johnson K
FAU - Ippel, E F
AU  - Ippel EF
FAU - Dietz-Band, J
AU  - Dietz-Band J
FAU - Kvaloy, K
AU  - Kvaloy K
FAU - Fan, C M
AU  - Fan CM
AU  - et al.
LA  - eng
GR  - HD17449/HD/NICHD NIH HHS/United States
GR  - HD28732/HD/NICHD NIH HHS/United States
GR  - HG00716/HG/NHGRI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - *Chromosome Mapping
MH  - *Chromosomes, Human, Pair 21
MH  - Down Syndrome/*genetics
MH  - Fetus
MH  - Holoprosencephaly/*genetics
MH  - Humans
MH  - Polymerase Chain Reaction
MH  - Prosencephalon
PMC - PMC1801356
EDAT- 1995/11/01 00:00
MHDA- 1995/11/01 00:01
PMCR- 1996/05/01
CRDT- 1995/11/01 00:00
PHST- 1995/11/01 00:00 [pubmed]
PHST- 1995/11/01 00:01 [medline]
PHST- 1995/11/01 00:00 [entrez]
PHST- 1996/05/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1995 Nov;57(5):1074-9.