PMID- 6236690
OWN - NLM
STAT- MEDLINE
DCOM- 19841017
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 36
IP  - 4
DP  - 1984 Jul
TI  - Duplication of chromosome 10p: confirmation of regional assignments of 
      platelet-type phosphofructokinase.
PG  - 750-9
AB  - A proband, clinically thought to have trisomy 10p, was found to have an inverted 
      duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The 
      phenotypic findings and cytogenetic observations were supported by relevant 
      biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), 
      previously localized to 10p, and hexokinase-I (HKI), putatively on 10p, 
      demonstrated 153% and 149% of control activity in the proband's fibroblasts. 
      These gene-dosage effects confirmed the clinical and cytogenetic observations as 
      well as the localization of HKI to 10p. Additionally, phosphofructokinase (PFK) 
      and hexokinase (HK), which are control points in the glycolytic pathway, were 
      shown to be syntenic.
FAU - Schwartz, S
AU  - Schwartz S
FAU - Cohen, M M
AU  - Cohen MM
FAU - Panny, S R
AU  - Panny SR
FAU - Beisel, J H
AU  - Beisel JH
FAU - Vora, S
AU  - Vora S
LA  - eng
GR  - AM33445/AM/NIADDK NIH HHS/United States
GR  - K04-AM-01260/AM/NIADDK 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
RN  - 0 (Genetic Markers)
RN  - 0 (Isoenzymes)
RN  - EC 2.7.1.1 (Hexokinase)
RN  - EC 2.7.1.11 (Phosphofructokinase-1)
SB  - IM
MH  - Adult
MH  - Blood Platelets/*enzymology
MH  - Chromatography, Ion Exchange
MH  - *Chromosome Mapping
MH  - *Chromosomes, Human, 6-12 and X
MH  - Female
MH  - Fibroblasts/enzymology
MH  - Genetic Markers
MH  - Hexokinase/genetics
MH  - Humans
MH  - Infant, Newborn
MH  - Isoenzymes/*genetics
MH  - Male
MH  - Phosphofructokinase-1/*genetics
MH  - *Trisomy
PMC - PMC1684484
EDAT- 1984/07/01 00:00
MHDA- 1984/07/01 00:01
PMCR- 1985/01/01
CRDT- 1984/07/01 00:00
PHST- 1984/07/01 00:00 [pubmed]
PHST- 1984/07/01 00:01 [medline]
PHST- 1984/07/01 00:00 [entrez]
PHST- 1985/01/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1984 Jul;36(4):750-9.