PMID- 33019458
OWN - NLM
STAT- MEDLINE
DCOM- 20201023
LR  - 20221005
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 99
IP  - 40
DP  - 2020 Oct 2
TI  - Molecular characterization of small supernumerary marker chromosomes derived from 
      chromosome 14/22 detected in adult women with fertility problems: Three case 
      reports and literature review.
PG  - e22532
LID - 10.1097/MD.0000000000022532 [doi]
LID - e22532
AB  - RATIONALE: Small supernumerary marker chromosomes (sSMC) are structurally 
      abnormal chromosomes, which can be detected in patients with developmental 
      retardation, infertile problems, and prenatal fetus. We report 3 adult female 
      with fertility problems carrying sSMC(14/22) and aim to explore the correlation 
      between sSMC(14/22) and fertility problems in women. PATIENT CONCERNS: Three 
      Chinese female patients were referred for infertility consultation in our 
      hospital. DIAGNOSES: The karyotype of these 3 patients were 47, XX, +mar. The 
      chromosome microarray analysis (CMA) detected various chromosomal duplications 
      and deletions in the 3 cases: a 0.49Mb gain of 5q32 for case 1; a 0.54Mb gain of 
      14q32.33 and a 1.83Mb gain of 16p11.2 for case 2; a 0.37Mb loss of 13q21.2q21.31 
      and a 0.12Mb gain of Xp11.2 for case 3. Fluorescence in situ hybridization (FISH) 
      using the specific probes for chromosomes 13/21, 14/22, and 15 was applied to 
      identify the origination of these sSMC, which were all finally identified as 
      sSMC(14/22). INTERVENTIONS: Case 1 underwent the artificial reproductive 
      technology to get her offspring and finally delivered a healthy male infant at 39 
      weeks. Case 2 did not plan to choose in vitro fertilization (IVF) to get 
      offspring. Case 3 refused to do assisted reproductive technology. OUTCOMES: The 
      genotype-phenotype correlation of sSMC(14/22) remain unclear. However, the 
      existence of sSMC(14/22) might negatively affect the fertility ability in sSMC 
      female carriers. LESSONS: The combined application of traditional banding 
      technique and molecular cytogenetic techniques can better identify more details 
      of sSMC. For sSMC carriers with fertility problems, they could get their 
      offsprings through assisted reproductive technologies after comprehensive 
      fertility assessment.
FAU - Sun, Meiling
AU  - Sun M
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin, P.R. China.
FAU - Zhang, Han
AU  - Zhang H
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin, P.R. China.
FAU - Xi, Qi
AU  - Xi Q
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin, P.R. China.
FAU - Li, Leilei
AU  - Li L
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin, P.R. China.
FAU - Hu, Xiaonan
AU  - Hu X
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin, P.R. China.
FAU - Zhang, Hongguo
AU  - Zhang H
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin, P.R. China.
FAU - Liu, Ruizhi
AU  - Liu R
AD  - Center for Reproductive Medicine and Center for Prenatal Diagnosis, First 
      Hospital.
AD  - Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin 
      University, Changchun, Jilin, P.R. China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
SB  - IM
MH  - Adult
MH  - China
MH  - *Chromosome Aberrations
MH  - Chromosome Duplication
MH  - Chromosomes, Human, Pair 14/*genetics
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Female/*genetics
MH  - Karyotype
PMC - PMC7535553
COIS- The authors have no conflicts of interest to disclose.
EDAT- 2020/10/07 06:00
MHDA- 2020/10/24 06:00
PMCR- 2020/10/02
CRDT- 2020/10/06 01:07
PHST- 2020/10/06 01:07 [entrez]
PHST- 2020/10/07 06:00 [pubmed]
PHST- 2020/10/24 06:00 [medline]
PHST- 2020/10/02 00:00 [pmc-release]
AID - 00005792-202010020-00080 [pii]
AID - MD-D-20-00069 [pii]
AID - 10.1097/MD.0000000000022532 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2020 Oct 2;99(40):e22532. doi: 10.1097/MD.0000000000022532.