PMID- 7820929
OWN - NLM
STAT- MEDLINE
DCOM- 19950216
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 46
IP  - 2
DP  - 1994 Aug
TI  - Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution 
      and molecular analysis.
PG  - 187-92
AB  - Two patients with DiGeorge syndrome (DGS), one with and one without 
      characteristic dysmorphic facial features, were studied by high resolution 
      banding, fluorescence in situ hybridization (FISH) and quantitative Southern 
      blotting. In both patients, even in the one with no typical facial stigmata, a 
      microdeletion within 22q11.2 was detected. FISH analysis, in particular, is most 
      useful in screening for 22q11.2 segmental monosomy in patients with DGS and 
      DGS-related features.
FAU - Franke, U C
AU  - Franke UC
AD  - Institut fur Humangenetik, Universitat Gottingen, Germany.
FAU - Scambler, P J
AU  - Scambler PJ
FAU - Loffler, C
AU  - Loffler C
FAU - Lons, P
AU  - Lons P
FAU - Hanefeld, F
AU  - Hanefeld F
FAU - Zoll, B
AU  - Zoll B
FAU - Hansmann, I
AU  - Hansmann I
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Blotting, Southern/methods
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Prospective Studies
EDAT- 1994/08/01 00:00
MHDA- 1994/08/01 00:01
CRDT- 1994/08/01 00:00
PHST- 1994/08/01 00:00 [pubmed]
PHST- 1994/08/01 00:01 [medline]
PHST- 1994/08/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1994.tb04222.x [doi]
PST - ppublish
SO  - Clin Genet. 1994 Aug;46(2):187-92. doi: 10.1111/j.1399-0004.1994.tb04222.x.