PMID- 32071615
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220412
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 13
DP  - 2020
TI  - Prenatal genetic analysis and differential pregnancy outcomes of two de novo 
      cases showing mosaic isodicentric Y chromosome.
PG  - 7
LID - 10.1186/s13039-020-0472-y [doi]
LID - 7
AB  - BACKGROUND: Fetal cells collected from the amniotic fluid of two pregnant women 
      indicated sex chromosome abnormalities. Therefore, we performed G-banded 
      chromosome karyotype analysis, single nucleotide polymorphism array (SNP array), 
      fluorescence in situ hybridization (FISH), and sequence-tagged sites (STS) 
      analysis of the Y chromosome to determine the rare molecular genetics of the two 
      fetuses. CASE PRESENTATION: The karyotypes of the fetuses from patients 1 and 2 
      were mos 45,X[92]/46,X,+idic(Y)(q11.21)[8] and mos 
      45,X[20]/46,X,+idic(Y)(q11.223)[80], respectively. Fetus 1 had a 7.76 Mb deletion 
      in Yq11.222q11.23 and a 15.68 Mb duplication in Yp11.2q11.21. Fetus 2 had 21 Mb 
      of repetitive segments in Yp11.3q11.223. Azoospermia factor (AZF) detection by 
      STS analysis revealed a missing AZFb+c region in fetus 1 and three functional AZF 
      regions in fetus 2. The isodicentric Y chromosome (idic (Y)) in both fetuses 
      arose de novo. The pregnancy of patient 1 was terminated, whereas the fetus of 
      patient 2 was delivered and is now 10 months old with normal appearance and 
      growth. CONCLUSION: A combination of technologies such as chromosome karyotyping, 
      FISH, SNP arrays, and STS analysis of the Y chromosome is important in prenatal 
      diagnosis to reduce birth defect rates and improve the health of the Chinese 
      population.
CI  - (c) The Author(s). 2020.
FAU - He, Si
AU  - He S
AD  - The prenatal diagnosis center of Hunan Province, The Maternal and Child Health 
      Hospital of Hunan Province, 53 Xiangchun Road, Kaifu District, Changsha City, 
      Hunan Province China.
FAU - Xi, Hui
AU  - Xi H
AD  - The prenatal diagnosis center of Hunan Province, The Maternal and Child Health 
      Hospital of Hunan Province, 53 Xiangchun Road, Kaifu District, Changsha City, 
      Hunan Province China.
FAU - Chen, Jing
AU  - Chen J
AD  - The prenatal diagnosis center of Hunan Province, The Maternal and Child Health 
      Hospital of Hunan Province, 53 Xiangchun Road, Kaifu District, Changsha City, 
      Hunan Province China.
FAU - Wang, Dan
AU  - Wang D
AD  - The prenatal diagnosis center of Hunan Province, The Maternal and Child Health 
      Hospital of Hunan Province, 53 Xiangchun Road, Kaifu District, Changsha City, 
      Hunan Province China.
FAU - Pang, Jialun
AU  - Pang J
AD  - The prenatal diagnosis center of Hunan Province, The Maternal and Child Health 
      Hospital of Hunan Province, 53 Xiangchun Road, Kaifu District, Changsha City, 
      Hunan Province China.
FAU - Hu, Jiancheng
AU  - Hu J
AD  - The prenatal diagnosis center of Hunan Province, The Maternal and Child Health 
      Hospital of Hunan Province, 53 Xiangchun Road, Kaifu District, Changsha City, 
      Hunan Province China.
FAU - Liu, Qin
AU  - Liu Q
AD  - The prenatal diagnosis center of Hunan Province, The Maternal and Child Health 
      Hospital of Hunan Province, 53 Xiangchun Road, Kaifu District, Changsha City, 
      Hunan Province China.
FAU - Jia, Zhengjun
AU  - Jia Z
AD  - The prenatal diagnosis center of Hunan Province, The Maternal and Child Health 
      Hospital of Hunan Province, 53 Xiangchun Road, Kaifu District, Changsha City, 
      Hunan Province China.
FAU - Wang, Hua
AU  - Wang H
AD  - The prenatal diagnosis center of Hunan Province, The Maternal and Child Health 
      Hospital of Hunan Province, 53 Xiangchun Road, Kaifu District, Changsha City, 
      Hunan Province China.
LA  - eng
PT  - Case Reports
DEP - 20200211
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC7014639
OTO - NOTNLM
OT  - AZF gene
OT  - Isodicentric Y
OT  - SNP array
COIS- Competing interestsThe authors declare that they have no competing interests.
EDAT- 2020/02/20 06:00
MHDA- 2020/02/20 06:01
PMCR- 2020/02/11
CRDT- 2020/02/20 06:00
PHST- 2019/11/11 00:00 [received]
PHST- 2020/01/15 00:00 [accepted]
PHST- 2020/02/20 06:00 [entrez]
PHST- 2020/02/20 06:00 [pubmed]
PHST- 2020/02/20 06:01 [medline]
PHST- 2020/02/11 00:00 [pmc-release]
AID - 472 [pii]
AID - 10.1186/s13039-020-0472-y [doi]
PST - epublish
SO  - Mol Cytogenet. 2020 Feb 11;13:7. doi: 10.1186/s13039-020-0472-y. eCollection 
      2020.