PMID- 37471662
OWN - NLM
STAT- MEDLINE
DCOM- 20230928
LR  - 20231202
IS  - 1078-6791 (Print)
IS  - 1078-6791 (Linking)
VI  - 29
IP  - 7
DP  - 2023 Oct
TI  - A Case of Maternal Uniparental Disomy of Chromosome 6 with Intrauterine Growth 
      Restriction.
PG  - 188-199
LID - AT8571 [pii]
AB  - BACKGROUND: Uniparental disomy (UPD) is a well-known epigenomic anomaly 
      characterized by the inheritance of both copies of a homologous pair of 
      chromosomes (or part thereof) from the same parent. This genetic condition can 
      have significant implications for prenatal diagnosis and management. CASE 
      PRESENTATION: We present a case of a 29-year-old gravida 1 para 0 female who 
      underwent amniocentesis at pregnancy Week 19 due to a high possibility of trisomy 
      chromosome 6, as indicated by noninvasive prenatal testing (NIPT). However, 
      fluorescence in situ hybridization (FISH) and whole-exome sequencing (WES) 
      revealed no abnormalities. Subsequently, chromosomal microarray analysis (CMA) 
      detected uniparental disomy of chromosome 6. Additionally, an ultrasound 
      examination at 28 weeks of gestation revealed intrauterine growth restriction 
      (IUGR). Given these findings, the parents made the decision to terminate the 
      pregnancy. CONCLUSIONS: The combination of genetic counseling, FISH, karyotype 
      analysis, WES, CMA, NIPT, and prenatal ultrasound can provide valuable insights 
      for the prenatal diagnosis of UPD. These diagnostic approaches play a crucial 
      role in identifying and managing cases of UPD, primarily when associated with 
      intrauterine growth restrictions.
FAU - Xing, Tianye
AU  - Xing T
FAU - Hu, Yanan
AU  - Hu Y
FAU - Yang, Jing
AU  - Yang J
FAU - Chang, Deyou
AU  - Chang D
FAU - Shang, Xiaoling
AU  - Shang X
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Altern Ther Health Med
JT  - Alternative therapies in health and medicine
JID - 9502013
SB  - IM
MH  - Pregnancy
MH  - Humans
MH  - Female
MH  - Adult
MH  - *Uniparental Disomy/diagnosis/genetics
MH  - *Fetal Growth Retardation/diagnosis/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Chromosomes, Human, Pair 6
MH  - Mosaicism
MH  - Trisomy
EDAT- 2023/07/20 19:14
MHDA- 2023/09/28 06:42
CRDT- 2023/07/20 15:53
PHST- 2023/09/28 06:42 [medline]
PHST- 2023/07/20 19:14 [pubmed]
PHST- 2023/07/20 15:53 [entrez]
AID - AT8571 [pii]
PST - ppublish
SO  - Altern Ther Health Med. 2023 Oct;29(7):188-199.