PMID- 35473567
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220716
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 15
IP  - 1
DP  - 2022 Apr 26
TI  - Prenatal diagnosis and genetic counseling of a uniparental isodisomy of 
      chromosome 8 with no phenotypic abnormalities.
PG  - 18
LID - 10.1186/s13039-022-00594-1 [doi]
LID - 18
AB  - BACKGROUND: Uniparental disomy (UPD) refers to an epigenomic abnormality in which 
      both copies of, or a part of, a homologous pair of chromosomes are inherited from 
      one parent. UPD arises via a number of mechanisms, including monosomic and 
      trisomic rescue (in embryonic development), incomplete segregation of 
      chromosomes, and mitotic recombination. CASE PRESENTATION: A 34-year-old, gravida 
      2, para 0 woman underwent amniocentesis at 18 weeks of gestation because the 
      noninvasive prenatal testing (NIPT) showed the highly possibility of trisomy 
      chromosome 8. GTG-banding karyotype analysis was performed on cultured 
      amniocytes. Chromosomal microarray analysis (CMA), fluorescence in situ 
      hybridization(FISH), whole-exome sequencing(WES) on uncultured amniocytes were 
      performed. RESULTS: CMA detected a 29.4 Mb uniparental isodisomy of chromosome 8, 
      arr 8p23.3p12(168484_29427840) x 2 hmz [GRCh37(hg19)]. FISH, WES and ultrasound 
      examination showed no abnormal. At the 36-month checkup, the baby was developing 
      normally. CONCLUSION: Combination of NIPT,prenatal ultrasound, karyotype 
      analysis, CMA, FISH, WES and genetic counseling will prove a more accurate risk 
      assessment for the prenatal diagnosis of UPD.
CI  - (c) 2022. The Author(s).
FAU - Yu, Chunjiao
AU  - Yu C
AD  - Department of Prenatal Diagnosis Center, Maternal, Child Health Hospital of Hubei 
      Province, Wuhan, Hubei, People's Republic of China.
FAU - Tian, Ying
AU  - Tian Y
AD  - Department of Obstetrics, Maternal, Child Health Hospital of Hubei Province, 
      Wuhan, Hubei, People's Republic of China.
FAU - Qi, Liang
AU  - Qi L
AD  - Department of Ophthalmology, Maternal, Child Health Hospital of Hubei Province, 
      Wuhan, Hubei, China.
FAU - Wang, Bo
AU  - Wang B
AD  - Department of Clinical Laboratory, Maternal, Child Health Hospital of Hubei 
      Province, Wuhan, Hubei, People's Republic of China. wangbo1005@163.com.
LA  - eng
PT  - Journal Article
DEP - 20220426
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC9044887
OTO - NOTNLM
OT  - Chromosomal microarray analysis
OT  - Fluorescence in situ hybridization
OT  - Noninvasive prenatal testing
OT  - Uniparental disomy
OT  - Whole-exome sequencing
COIS- The authors declare that they have no competing interests.
EDAT- 2022/04/28 06:00
MHDA- 2022/04/28 06:01
PMCR- 2022/04/26
CRDT- 2022/04/27 05:13
PHST- 2022/02/19 00:00 [received]
PHST- 2022/03/22 00:00 [accepted]
PHST- 2022/04/27 05:13 [entrez]
PHST- 2022/04/28 06:00 [pubmed]
PHST- 2022/04/28 06:01 [medline]
PHST- 2022/04/26 00:00 [pmc-release]
AID - 10.1186/s13039-022-00594-1 [pii]
AID - 594 [pii]
AID - 10.1186/s13039-022-00594-1 [doi]
PST - epublish
SO  - Mol Cytogenet. 2022 Apr 26;15(1):18. doi: 10.1186/s13039-022-00594-1.