PMID- 30468402
OWN - NLM
STAT- MEDLINE
DCOM- 20190704
LR  - 20190704
IS  - 1551-3823 (Electronic)
IS  - 1551-3815 (Linking)
VI  - 37
IP  - 6
DP  - 2018 Dec
TI  - UPD16 itself is not a cause of intrauterine growth restriction.
PG  - 452-464
LID - 10.1080/15513815.2018.1538275 [doi]
AB  - BACKGROUND: The clinical relevance of uniparental disomy (UPD16) for chromosome 
      16 is currently unclear. METHODS AND RESULT: We performed chromosome microarray 
      analysis on two fetus and their placentas, fluorescence in situ hybridization 
      (FISH) to exclude the hidden chr16 trisomy mosaicism in the fetuses, and clinical 
      whole-exome sequencing to assess for homozygosity mutations of 
      autosomal-recessive diseases. RESULTS: Microarray analysis of two fetuses had 
      UPD16. The membranous placenta of the case 1 had confined placental mosaicism 
      (CPM) for trisomy 16. Clinical whole-exome sequencing on chromosome 16 revealed 
      three potentially pathogenic single nucleotide polymorphisms (SNPs). 
      Gap-polymerase chain reaction (PCR) and MLPA for a-thal deletions demonstrated 
      that case 2 was homozygous for the -SEA deletion. CONCLUSIONS: The poor outcome 
      in these fetuses may be attributed to other factors, the membranous placenta and 
      the -SEA deletion, respectively. Fetal UPD16 itself might be not correlated with 
      intrauterine growth restriction (IUGR) and thus is not the basic cause of IUGR.
FAU - Wang, Hui
AU  - Wang H
AD  - a Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical 
      University , Guangzhou, Guangdong , China.
AD  - b Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital , 
      henzhen, Guangdong Province , China.
FAU - Luo, Caiqun
AU  - Luo C
AD  - b Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital , 
      henzhen, Guangdong Province , China.
FAU - Liu, Yang
AU  - Liu Y
AD  - b Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital , 
      henzhen, Guangdong Province , China.
FAU - Li, Shengli
AU  - Li S
AD  - c Ultrasound Department, Shenzhen Maternity and Child Healthcare Hospital , 
      Shenzhen, Guangdong Province , China.
FAU - Jiang, Niping
AU  - Jiang N
AD  - b Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital , 
      henzhen, Guangdong Province , China.
FAU - Zhang, Guanglin
AU  - Zhang G
AD  - d AmCare Genomics Laboratory, International BioIsland , Guangzhou, Guangdong , 
      China.
FAU - Xie, Jiansheng
AU  - Xie J
AD  - b Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital , 
      henzhen, Guangdong Province , China.
FAU - Zhong, Mei
AU  - Zhong M
AD  - a Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical 
      University , Guangzhou, Guangdong , China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20181123
PL  - England
TA  - Fetal Pediatr Pathol
JT  - Fetal and pediatric pathology
JID - 101230972
SB  - IM
MH  - Chromosomes, Human, Pair 16/*genetics
MH  - Female
MH  - Fetal Growth Retardation/*genetics
MH  - Humans
MH  - Placenta/pathology
MH  - Pregnancy
MH  - Uniparental Disomy/*genetics
OTO - NOTNLM
OT  - chromosome microarray analysis
OT  - clinical whole-exome sequencing
OT  - intrauterine growth restriction
OT  - membranous placenta
OT  - uniparental disomy
EDAT- 2018/11/24 06:00
MHDA- 2019/07/05 06:00
CRDT- 2018/11/24 06:00
PHST- 2018/11/24 06:00 [pubmed]
PHST- 2019/07/05 06:00 [medline]
PHST- 2018/11/24 06:00 [entrez]
AID - 10.1080/15513815.2018.1538275 [doi]
PST - ppublish
SO  - Fetal Pediatr Pathol. 2018 Dec;37(6):452-464. doi: 10.1080/15513815.2018.1538275. 
      Epub 2018 Nov 23.