PMID- 33280174
OWN - NLM
STAT- MEDLINE
DCOM- 20211029
LR  - 20211029
IS  - 1098-2825 (Electronic)
IS  - 0887-8013 (Print)
IS  - 0887-8013 (Linking)
VI  - 35
IP  - 2
DP  - 2021 Feb
TI  - Molecular cytogenetic studies of a male carrier with a unique (Y;14) 
      translocation: Case report.
PG  - e23614
LID - 10.1002/jcla.23614 [doi]
LID - e23614
AB  - BACKGROUND: Chromosome translocation is a genetic factor associated with male 
      infertility. However, cases of Y chromosome/autosome translocation are rare. 
      Individuals with translocation between the Y chromosome and an autosome have a 
      variety of different clinical phenotypes. There is a need for further study of 
      molecular cytogenetic feature of those with Y chromosome translocation. METHODS: 
      We reported that an apparently healthy 31-year-old man, 168 cm tall and weighing 
      65 kg, had a 2-year history of primary infertility after marriage. Clinical 
      diagnostic techniques included semen analysis, hormone measurements, cytogenetic 
      analysis, fluorescence in situ hybridization (FISH), and high-throughput 
      multiplex ligation-dependent probe amplification semiconductor sequencing. 
      Detailed genetic counseling was provided to the patient. Intracytoplasmic sperm 
      injection treatment combined with preimplantation genetic diagnosis was chosen 
      with the aim of achieving a successful pregnancy. RESULTS: Semen analysis 
      revealed cryptozoospermia. Hormone levels were within the normal limits. 
      Sequencing results indicated the presence of the sex-determining region on Yp, 
      and AZFa, AZFb, and AZFc regions on Yq. The patient's karyotype was 
      45,X,psu,dic(Y;14)(p11.3;q11.2), which was confirmed by cytogenetic analysis and 
      FISH. CONCLUSION: This study reports a case of cryptozoospermia in a male patient 
      with a Y;14 chromosomal translocation. When clinical karyotyping has revealed 
      potential Y chromosome abnormality, FISH or molecular detection should be further 
      performed to facilitate identification of the chromosomal breakpoint.
CI  - (c) 2020 The Authors. Journal of Clinical Laboratory Analysis published by Wiley 
      Periodicals LLC.
FAU - Chen, Shuang
AU  - Chen S
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital, Jilin University, Changchun, China.
FAU - Xi, Qi
AU  - Xi Q
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital, Jilin University, Changchun, China.
FAU - Zhang, Xinyue
AU  - Zhang X
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital, Jilin University, Changchun, China.
FAU - Jiang, Yuting
AU  - Jiang Y
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital, Jilin University, Changchun, China.
FAU - Li, Leilei
AU  - Li L
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital, Jilin University, Changchun, China.
FAU - Liu, Ruizhi
AU  - Liu R
AUID- ORCID: 0000-0002-3386-7765
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital, Jilin University, Changchun, China.
FAU - Zhang, Hongguo
AU  - Zhang H
AUID- ORCID: 0000-0001-8953-863X
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital, Jilin University, Changchun, China.
LA  - eng
GR  - 2016YFC1000601/The National Key Research and Development Program of China/
PT  - Case Reports
DEP - 20201014
PL  - United States
TA  - J Clin Lab Anal
JT  - Journal of clinical laboratory analysis
JID - 8801384
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 14
MH  - *Chromosomes, Human, Y
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/*genetics
MH  - Male
MH  - Pregnancy
MH  - Sperm Injections, Intracytoplasmic
MH  - *Translocation, Genetic
PMC - PMC7891519
OTO - NOTNLM
OT  - Y;14 translocation
OT  - cryptozoospermia
OT  - genetic counseling
OT  - male infertility
EDAT- 2020/12/07 06:00
MHDA- 2021/10/30 06:00
PMCR- 2020/10/14
CRDT- 2020/12/06 21:11
PHST- 2020/05/25 00:00 [received]
PHST- 2020/09/17 00:00 [revised]
PHST- 2020/09/20 00:00 [accepted]
PHST- 2020/12/07 06:00 [pubmed]
PHST- 2021/10/30 06:00 [medline]
PHST- 2020/12/06 21:11 [entrez]
PHST- 2020/10/14 00:00 [pmc-release]
AID - JCLA23614 [pii]
AID - 10.1002/jcla.23614 [doi]
PST - ppublish
SO  - J Clin Lab Anal. 2021 Feb;35(2):e23614. doi: 10.1002/jcla.23614. Epub 2020 Oct 
      14.