PMID- 35164811
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220219
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 15
IP  - 1
DP  - 2022 Feb 14
TI  - Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X 
      karyotype.
PG  - 3
LID - 10.1186/s13039-022-00581-6 [doi]
LID - 3
AB  - BACKGROUND: A rare disease is that an individual with a non-chimeric karyotype of 
      45,X develops into a male. We explored the genetic aetiology of an infertile male 
      with an apparent 45,X karyotype, which was subsequently verified as cryptic 
      translocation between chromosomes Y and 15. METHODS: DNA was extracted from the 
      patient's peripheral blood. A range of genetic testing was performed, including 
      conventional chromosomal karyotyping, short tandem repeat (STR) analysis for 
      azoospermia factor (AZF) region, fluorescence in situ hybridization (FISH) with 
      specific probes groups of DXZ1/DYZ3, DYZ3/D15Z1/PML and SRY/D15Z1/PML, and 
      chromosomal microarray analysis (CMA) for genomic copy number variations (CNVs). 
      RESULTS: The patient was found to have an apparent 45,X karyotype. STR analysis 
      showed that he possessed a short arm of the Y chromosome, including the SRY gene; 
      however, he was missing the long arm of the Y chromosome, including AZFa + b + c 
      and Yqter. A FISH assay of DXZ1 and DYZ3 probes showed a green signal of the X 
      centromere and a red of the Y centromeric signal on a D-group-sized chromosome. 
      By FISH assaying with D15Z1 and DYZ3 probes, chromosomes 15 and Y centromeric 
      signals appeared closely on a single chromosome, as the PML control probe 
      ascertained. A further FISH assay with D15Z1 and SRY probes revealed a signal of 
      the SRY gene at the end of one arm of chromosome 15. The result of the CMA 
      indicated a deletion with an approximate size of 45.31 Mb spanning from Yq11 to 
      Yter. CONCLUSION: Our study enriched the karyotype-phenotype correlation of Y and 
      15 chromosomes translocation. It strengthened the critical roles of molecular 
      genetic techniques in identifying the chromosomal breakpoints and regions 
      involved. Genetic aetiology can guide early intervention in childhood and 
      assisted reproduction in adulthood.
CI  - (c) 2022. The Author(s).
FAU - Qin, Shengfang
AU  - Qin S
AUID- ORCID: 0000-0001-9391-890X
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China. 
      qinshengfang@126.com.
FAU - Wang, Xueyan
AU  - Wang X
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
FAU - Wang, Jin
AU  - Wang J
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
FAU - Zhang, Zhuo
AU  - Zhang Z
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
FAU - Chen, Ximin
AU  - Chen X
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
FAU - Yin, Yan
AU  - Yin Y
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
FAU - Ye, Mengling
AU  - Ye M
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu, 610045, Sichuan, China.
FAU - Li-Ling, Jesse
AU  - Li-Ling J
AD  - Department of Medical Genetics, West China Second Hospital, Sichuan University, 
      Chengdu, 610041, Sichuan, China. jliling@scu.edu.cn.
LA  - eng
PT  - Journal Article
DEP - 20220214
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC8842983
OTO - NOTNLM
OT  - 45,X male
OT  - Azoospermia factor
OT  - Chromosomal microarray analysis
OT  - Fluorescence in situ hybridization
OT  - Sex-determining region Y gene
OT  - Y chromosome translocation
COIS- The authors declare that they have no competing interests.
EDAT- 2022/02/16 06:00
MHDA- 2022/02/16 06:01
PMCR- 2022/02/14
CRDT- 2022/02/15 05:31
PHST- 2021/08/21 00:00 [received]
PHST- 2022/01/28 00:00 [accepted]
PHST- 2022/02/15 05:31 [entrez]
PHST- 2022/02/16 06:00 [pubmed]
PHST- 2022/02/16 06:01 [medline]
PHST- 2022/02/14 00:00 [pmc-release]
AID - 10.1186/s13039-022-00581-6 [pii]
AID - 581 [pii]
AID - 10.1186/s13039-022-00581-6 [doi]
PST - epublish
SO  - Mol Cytogenet. 2022 Feb 14;15(1):3. doi: 10.1186/s13039-022-00581-6.