PMID- 9508065
OWN - NLM
STAT- MEDLINE
DCOM- 19980421
LR  - 20191023
IS  - 0148-7299 (Print)
IS  - 1096-8628 (Electronic)
IS  - 0148-7299 (Linking)
VI  - 76
IP  - 1
DP  - 1998 Feb 26
TI  - Molecular cytogenetic analysis of patients with holoprosencephaly and structural 
      rearrangements of 7q.
PG  - 51-7
AB  - The holoprosencephaly (HPE) sequence is a malformation complex with abnormal 
      midline cleavage of the embryonic forebrain. HPE is genetically heterogeneous 
      with at least 6 different chromosome regions containing genes involved in the 
      expression of the phenotype. HPE3, recently identified as the human Sonic 
      hedgehog gene, is localized to 7q36. We have used fluorescence in situ 
      hybridization (FISH) and polymerase chain reaction (PCR) amplification in 5 cell 
      lines from patients with HPE (3 cases), HPE and sacral agenesis (1 case), and 
      microcephaly (1 case) to further define the structural rearrangements of the long 
      arm of chromosome 7 in each case. All cell lines demonstrated loss of material in 
      the critical region of HPE3 at band 7q36, which includes the Sonic hedgehog gene. 
      We report here the analysis of these patient cell lines.
FAU - Vance, G H
AU  - Vance GH
AD  - Department of Medical and Molecular Genetics, Indiana University School of 
      Medicine, Indianapolis 46202-5251, USA. gvance@medgen.iupui.edu
FAU - Nickerson, C
AU  - Nickerson C
FAU - Sarnat, L
AU  - Sarnat L
FAU - Zhang, A
AU  - Zhang A
FAU - Henegariu, O
AU  - Henegariu O
FAU - Morichon-Delvallez, N
AU  - Morichon-Delvallez N
FAU - Butler, M G
AU  - Butler MG
FAU - Palmer, C G
AU  - Palmer CG
LA  - eng
GR  - P01 HD030329/HD/NICHD NIH HHS/United States
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Genetic Markers)
RN  - 0 (Hedgehog Proteins)
RN  - 0 (Proteins)
RN  - 0 (SHH protein, human)
RN  - 0 (Trans-Activators)
SB  - IM
MH  - Cell Line
MH  - *Chromosome Aberrations
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 13/genetics
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Cytogenetics
MH  - Female
MH  - Genetic Markers
MH  - Hedgehog Proteins
MH  - Holoprosencephaly/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Mosaicism
MH  - Polymerase Chain Reaction
MH  - Proteins/genetics
MH  - *Trans-Activators
MH  - Translocation, Genetic
PMC - PMC6775641
MID - NIHMS1052225
EDAT- 1998/03/21 03:23
MHDA- 2000/06/20 09:00
PMCR- 2019/10/03
CRDT- 1998/03/21 03:23
PHST- 1998/03/21 03:23 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/03/21 03:23 [entrez]
PHST- 2019/10/03 00:00 [pmc-release]
AID - 10.1002/(SICI)1096-8628(19980226)76:1<51::AID-AJMG9>3.0.CO;2-S [pii]
PST - ppublish
SO  - Am J Med Genet. 1998 Feb 26;76(1):51-7.