PMID- 29752043
OWN - NLM
STAT- MEDLINE
DCOM- 20190103
LR  - 20220408
IS  - 0929-6646 (Print)
IS  - 0929-6646 (Linking)
VI  - 117
IP  - 11
DP  - 2018 Nov
TI  - Application of molecular cytogenetic techniques to characterize the aberrant Y 
      chromosome arising de novo in a male fetus with mosaic 45,X and solve the 
      discrepancy between karyotyping, chromosome microarray, and multiplex ligation 
      dependent probe amplification.
PG  - 1027-1031
LID - S0929-6646(18)30118-9 [pii]
LID - 10.1016/j.jfma.2018.04.011 [doi]
AB  - We present a rare male fetus with karyotype of mosaic 45,X that comprises two 
      types of aberrant Y chromosomes arising de novo (Yq12 deletion and isodicentric 
      Yq11.22). Both types of the aberrant Y chromosomes lack the AZFc region which are 
      expected to result in oligospermia but unaffected male external genitalia. 
      Genetic analyses by karyotyping, chromosome microarray (CMA), and multiplex 
      ligation-dependent probe amplification (MLPA) for the fetus revealed conflicting 
      results. Additional molecular cytogenetics tools including fluorescence in situ 
      hybridization (FISH) and multicolor banding (mBAND) were performed, which help 
      resolving the discrepancy and delineated the composition of the aberrant Y 
      chromosomes. This report highlighted the importance of incorporating multiple 
      genetic technologies for accurate characterization of complex chromosomal 
      rearrangements, which aid in the prenatal diagnosis and genetic counseling.
CI  - Copyright (c) 2018. Published by Elsevier B.V.
FAU - Lin, Shin-Yu
AU  - Lin SY
AD  - Department of Medical Genetics, National Taiwan University Hospital, Taipei, 
      Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National 
      Taiwan University, Taipei, Taiwan.
FAU - Lee, Chien-Nan
AU  - Lee CN
AD  - Department of Obstetrics and Gynecology, College of Medicine, National Taiwan 
      University, Taipei, Taiwan.
FAU - Peng, Ai-Ying
AU  - Peng AY
AD  - Department of Medical Genetics, National Taiwan University Hospital, Taipei, 
      Taiwan.
FAU - Yuan, Ti-Jia
AU  - Yuan TJ
AD  - Department of Medical Genetics, National Taiwan University Hospital, Taipei, 
      Taiwan.
FAU - Lee, Dong-Jay
AU  - Lee DJ
AD  - Department of Genomic Medicine, Changhua Christian Hospital, Changhua, Taiwan; 
      Department of Genomic Science and Technology, Changhua Christian Hospital, 
      Changhua, Taiwan; Laboratory of Genetics, Development, and Systems Biology, 
      Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan.
FAU - Lin, Wen-Hsiang
AU  - Lin WH
AD  - Department of Genomic Medicine, Changhua Christian Hospital, Changhua, Taiwan; 
      Department of Genomic Science and Technology, Changhua Christian Hospital, 
      Changhua, Taiwan.
FAU - Ma, Gwo-Chin
AU  - Ma GC
AD  - Department of Genomic Medicine, Changhua Christian Hospital, Changhua, Taiwan; 
      Department of Genomic Science and Technology, Changhua Christian Hospital, 
      Changhua, Taiwan; Laboratory of Genetics, Development, and Systems Biology, 
      Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; 
      Department of Medical Laboratory Science and Biotechnology, Central Taiwan 
      University of Science and Technology, Taichung, Taiwan.
FAU - Chen, Ming
AU  - Chen M
AD  - Department of Medical Genetics, National Taiwan University Hospital, Taipei, 
      Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National 
      Taiwan University, Taipei, Taiwan; Department of Genomic Medicine, Changhua 
      Christian Hospital, Changhua, Taiwan; Department of Genomic Science and 
      Technology, Changhua Christian Hospital, Changhua, Taiwan; Laboratory of 
      Genetics, Development, and Systems Biology, Department of Medical Research, 
      Changhua Christian Hospital, Changhua, Taiwan; Department of Life Science, 
      Tunghai University, Taichung, Taiwan; Department of Molecular Biotechnology, 
      College of Biotechnology and Bioresources, Dayeh University, Changhua, Taiwan. 
      Electronic address: mingchenmd@gmail.com.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20180509
PL  - Singapore
TA  - J Formos Med Assoc
JT  - Journal of the Formosan Medical Association = Taiwan yi zhi
JID - 9214933
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, X/*genetics
MH  - Chromosomes, Human, Y/*genetics
MH  - Female
MH  - Fetus/diagnostic imaging
MH  - Genetic Counseling
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Microarray Analysis
MH  - *Mosaicism
MH  - Multiplex Polymerase Chain Reaction
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Sex Chromosome Aberrations
MH  - Ultrasonography, Prenatal
OTO - NOTNLM
OT  - AZF
OT  - CMA
OT  - FISH
OT  - Karyotyping
OT  - idic(Y)
OT  - mBAND
EDAT- 2018/05/13 06:00
MHDA- 2019/01/04 06:00
CRDT- 2018/05/13 06:00
PHST- 2018/02/26 00:00 [received]
PHST- 2018/04/18 00:00 [revised]
PHST- 2018/04/24 00:00 [accepted]
PHST- 2018/05/13 06:00 [pubmed]
PHST- 2019/01/04 06:00 [medline]
PHST- 2018/05/13 06:00 [entrez]
AID - S0929-6646(18)30118-9 [pii]
AID - 10.1016/j.jfma.2018.04.011 [doi]
PST - ppublish
SO  - J Formos Med Assoc. 2018 Nov;117(11):1027-1031. doi: 10.1016/j.jfma.2018.04.011. 
      Epub 2018 May 9.