PMID- 8937770
OWN - NLM
STAT- MEDLINE
DCOM- 19970314
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 50
IP  - 2
DP  - 1996 Aug
TI  - The evaluation of gonosomal mosaics: lymphocyte interphase nuclei analyzed by 
      FISH.
PG  - 99-102
AB  - The reliable evaluation of chromosomal mosaics is still considered to be 
      difficult in clinical diagnosis if aberrant metaphases are only present at low 
      frequencies. Classical cytogenetic findings cannot significantly exclude low 
      mosaic levels, obviously, because of the relatively low number of analyzed 
      metaphases. To study this problem, the number of gonosomes in lymphocyte 
      interphase nuclei was determined by FISH (fluorescence in situ hybridization) 
      application of two satellite DNA probes. DXZI and DYZI. The results obtained with 
      this method from lymphocytes of clinically and cytogenetically inconspicuous 
      persons showed a high degree of reliability. The DNA probe yielded correct 
      signals in more than 95% of the analyzed nuclei. Additionally, patients were 
      examined who showed cytogenetically confirmed numerical gonosome aberrations. 
      These results were compared with those obtained from the control group of 
      inconspicuous patients and discussed with respect to the evaluation of gonosomal 
      mosaics.
FAU - Schliephacke, M
AU  - Schliephacke M
AD  - Abteilung fur Klinische Genetik, Universitat Tubingen, Germany.
FAU - Maier, C I
AU  - Maier CI
FAU - Majlinger, G
AU  - Majlinger G
FAU - Tomiuk, J
AU  - Tomiuk J
FAU - Leipoldt, M
AU  - Leipoldt M
FAU - Kaiser, P
AU  - Kaiser P
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Cell Nucleus/ultrastructure
MH  - Female
MH  - Gonadoblastoma/epidemiology/genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Lymphocytes/*ultrastructure
MH  - Male
MH  - *Mosaicism
MH  - Risk Factors
EDAT- 1996/08/01 00:00
MHDA- 1996/08/01 00:01
CRDT- 1996/08/01 00:00
PHST- 1996/08/01 00:00 [pubmed]
PHST- 1996/08/01 00:01 [medline]
PHST- 1996/08/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1996.tb02357.x [doi]
PST - ppublish
SO  - Clin Genet. 1996 Aug;50(2):99-102. doi: 10.1111/j.1399-0004.1996.tb02357.x.