PMID- 36031329
OWN - NLM
STAT- MEDLINE
DCOM- 20220830
LR  - 20220830
IS  - 1879-3592 (Electronic)
IS  - 1383-5718 (Linking)
VI  - 881
DP  - 2022 Sep
TI  - Susceptibility to chromosome instability and occurrence of the regular form of 
      Down syndrome in young couples.
PG  - 503511
LID - S1383-5718(22)00072-9 [pii]
LID - 10.1016/j.mrgentox.2022.503511 [doi]
AB  - Although the risk of pregnancy with Down syndrome (DS) increases with age, 
      conceptions with trisomy 21 can occur in mothers aged 35 or less. The 
      micronucleus test on peripheral blood lymphocytes is a well-recognized method for 
      studying chromosomal instability. The aim of this study was to evaluate the 
      application of the micronucleus assay and fluorescence in situ hybridization 
      (FISH) for estimation of chromosome instability and occurrence of trisomy 21 in 
      young parents having pregnancy or a child with the regular form of Down syndrome. 
      The study included 54 parents (27 couples) who had previous pregnancy with 
      trisomy 21 at age 35 or less. The control group consisted of 30 couples with two 
      healthy children and no previous spontaneous abortions. Parents with trisomy 21 
      pregnancy had significantly higher frequencies of micronuclei in binucleated 
      cells. There was no statistically significant difference between the study and 
      control groups in the frequencies of micronuclei in mononuclear cells, nuclear 
      buds, or nucleoplasmic bridges. FISH analysis showed higher percentages of 
      micronuclei containing whole chromosomes as well as statistically significant 
      higher numbers of micronuclei containing chromosome 21 in the peripheral blood of 
      DS parents. There was no statistically significant difference between the two 
      groups in the responses of peripheral blood lymphocytes to treatment with the 
      mutagen mitomycin C. Our results suggest that young parents with a history of the 
      regular form of Down syndrome have a higher susceptibility to chromosome 
      nondisjunction in peripheral blood lymphocytes. The micronucleus assay showed 
      high specificity, but moderate sensitivity, for risk assessment of trisomy 21 
      pregnancy.
CI  - Copyright (c) 2022 Elsevier B.V. All rights reserved.
FAU - Vicic, Ana
AU  - Vicic A
AD  - Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical 
      Hospital "Sveti Duh", Sveti Duh 64, HR-10000 Zagreb, Croatia; University of 
      Applied Health Sciences, Mlinarska cesta 38, HR-10000 Zagreb, Croatia. Electronic 
      address: vicic.ana@gmail.com.
FAU - Stipoljev, Feodora
AU  - Stipoljev F
AD  - Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical 
      Hospital "Sveti Duh", Sveti Duh 64, HR-10000 Zagreb, Croatia; Faculty of 
      Medicine, University of Osijek, Josipa Huttlera 4, HR-31000 Osijek, Croatia.
LA  - eng
PT  - Journal Article
DEP - 20220602
PL  - Netherlands
TA  - Mutat Res Genet Toxicol Environ Mutagen
JT  - Mutation research. Genetic toxicology and environmental mutagenesis
JID - 101632149
SB  - IM
MH  - Chromosomal Instability
MH  - *Down Syndrome
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Lymphocytes
MH  - Micronuclei, Chromosome-Defective
MH  - Micronucleus Tests
MH  - Nondisjunction, Genetic
MH  - Pregnancy
OTO - NOTNLM
OT  - Micronucleus assay
OT  - Mitomycin C
OT  - Trisomy 21
EDAT- 2022/08/29 06:00
MHDA- 2022/08/31 06:00
CRDT- 2022/08/28 21:05
PHST- 2021/10/12 00:00 [received]
PHST- 2022/05/27 00:00 [revised]
PHST- 2022/05/28 00:00 [accepted]
PHST- 2022/08/28 21:05 [entrez]
PHST- 2022/08/29 06:00 [pubmed]
PHST- 2022/08/31 06:00 [medline]
AID - S1383-5718(22)00072-9 [pii]
AID - 10.1016/j.mrgentox.2022.503511 [doi]
PST - ppublish
SO  - Mutat Res Genet Toxicol Environ Mutagen. 2022 Sep;881:503511. doi: 
      10.1016/j.mrgentox.2022.503511. Epub 2022 Jun 2.