PMID- 8834234
OWN - NLM
STAT- MEDLINE
DCOM- 19961203
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 97
IP  - 4
DP  - 1996 Apr
TI  - Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart 
      specimens using fluorescence in situ hybridization.
PG  - 414-7
AB  - Seven formalin-fixed, paraffin-embedded heart specimens set up at autopsy 
      performed from 3 to 18 years before analysis of newborns in which DiGeorge 
      syndrome (DGS) was suspected were evaluated by fluorescence in situ hybridization 
      (FISH) using a DGS region-specific probe and a control probe on nuclei released 
      from thick sections. The diagnosis was confirmed in four of the six specimens, 
      which provided valuable results, and in none of the controls. This study supports 
      the feasibility and usefulness of FISH genotyping of archival autoptic material, 
      which improves and assists the counselling procedures.
FAU - Calabrese, G
AU  - Calabrese G
AD  - Istituto di Biologia e Genetica, Universita G. D'Annunzio, Chieti, Italy.
FAU - Mingarelli, R
AU  - Mingarelli R
FAU - Francalanci, P
AU  - Francalanci P
FAU - Boldrini, R
AU  - Boldrini R
FAU - Palka, G
AU  - Palka G
FAU - Bosman, C
AU  - Bosman C
FAU - Novelli, G
AU  - Novelli G
FAU - Dallapiccola, B
AU  - Dallapiccola B
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Autopsy
MH  - DiGeorge Syndrome/*genetics/pathology
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - Myocardium/*pathology
EDAT- 1996/04/01 00:00
MHDA- 1996/04/01 00:01
CRDT- 1996/04/01 00:00
PHST- 1996/04/01 00:00 [pubmed]
PHST- 1996/04/01 00:01 [medline]
PHST- 1996/04/01 00:00 [entrez]
AID - 10.1007/BF02267058 [doi]
PST - ppublish
SO  - Hum Genet. 1996 Apr;97(4):414-7. doi: 10.1007/BF02267058.