PMID- 35927742
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220808
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 15
IP  - 1
DP  - 2022 Aug 4
TI  - Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses 
      with isochromosome Y.
PG  - 32
LID - 10.1186/s13039-022-00611-3 [doi]
LID - 32
AB  - BACKGROUND: The mosaic forms and clinical phenotypes of fetuses with 
      isochromosome Y are difficult to predict. Therefore, we summarized the cases of 
      nine fetuses with isochromosome Y identified in prenatal diagnosis with a 
      combination of molecular cytogenetic techniques, providing clinical evidence for 
      prenatal genetic counseling. METHODS: The prenatal diagnosis and pregnancy 
      outcomes of nine fetuses with isochromosome Y were obtained by a  retrospective 
      analysis. Isochromosome Y was identified prenatally by different approaches, such 
      as conventional karyotyping, chromosomal microarray analysis (CMA), quantitative 
      fluorescent polymerase chain reaction (QF-PCR) and fluorescence in situ 
      hybridization (FISH). RESULTS: Seven idic(Y) fetuses and two i(Y) fetuses were 
      identified. One fetus was complete for i(Y)(p10), and the rest with 45,X had 
      mosaic forms. A break and fusion locus was identified in Yp11.3 in one fetus, in 
      Yq11.22 in six fetuses and in Yp10 in two fetuses. The CMA results suggested that 
      different deletions and duplications were found on the Y chromosome. The deletion 
      fragments ranged from 4.7 Mb to the entire Y chromosome, and the duplication 
      fragments ranged from 10.4 to 18.0 Mb. QF-PCR analysis suggested that the AZF 
      region was intact in one fetus, four fetuses had AZFb+c+d deletion, one fetus had 
      AZFa+b+c+d deletion, and one fetus had AZFc+d deletion. Finally, four healthy 
      male neonates were delivered successfully, but the parents of the remaining five 
      fetuses, including three healthy and two unhealthy fetuses, chose to terminate 
      their pregnancies. CONCLUSION: The fetus and neonate phenotype of prenatally 
      detected isochromosome Y usually is that of a normally developed male, 
      ascertained in the absence of other indicators of a fetal structural anomaly. Our 
      study provides clinical reference materials for risk assessment and permits 
      better prenatally counseling and preparation of parents facing the birth of 
      isochromosome Y fetuses.
CI  - (c) 2022. The Author(s).
FAU - He, Yiqun
AU  - He Y
AD  - Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, 521-523 Xingnan 
      Road, Guangzhou, 511442, Guangdong, China.
FAU - Guo, Li
AU  - Guo L
AD  - Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, 521-523 Xingnan 
      Road, Guangzhou, 511442, Guangdong, China.
FAU - Zheng, Laiping
AU  - Zheng L
AD  - Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, 521-523 Xingnan 
      Road, Guangzhou, 511442, Guangdong, China.
FAU - Ren, Congmian
AU  - Ren C
AD  - Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, 521-523 Xingnan 
      Road, Guangzhou, 511442, Guangdong, China.
FAU - Wang, Ting
AU  - Wang T
AD  - Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, 521-523 Xingnan 
      Road, Guangzhou, 511442, Guangdong, China.
FAU - Lu, Jian
AU  - Lu J
AD  - Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, 521-523 Xingnan 
      Road, Guangzhou, 511442, Guangdong, China. lxjian326@foxmail.com.
LA  - eng
GR  - 202102080233/Guangzhou Basic and Applied Basic Research Project Grant/
PT  - Journal Article
DEP - 20220804
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC9351221
OTO - NOTNLM
OT  - CMA
OT  - FISH
OT  - I(Y)
OT  - Idic(Y)
OT  - Isochromosome Y
OT  - Mosaicism
OT  - Prenatal diagnose
OT  - QF-PCR
COIS- The authors declare no competing interests.
EDAT- 2022/08/05 06:00
MHDA- 2022/08/05 06:01
PMCR- 2022/08/04
CRDT- 2022/08/04 23:50
PHST- 2022/06/08 00:00 [received]
PHST- 2022/07/21 00:00 [accepted]
PHST- 2022/08/04 23:50 [entrez]
PHST- 2022/08/05 06:00 [pubmed]
PHST- 2022/08/05 06:01 [medline]
PHST- 2022/08/04 00:00 [pmc-release]
AID - 10.1186/s13039-022-00611-3 [pii]
AID - 611 [pii]
AID - 10.1186/s13039-022-00611-3 [doi]
PST - epublish
SO  - Mol Cytogenet. 2022 Aug 4;15(1):32. doi: 10.1186/s13039-022-00611-3.