PMID- 36088059
OWN - NLM
STAT- MEDLINE
DCOM- 20220913
LR  - 20220913
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 5
DP  - 2022 Sep
TI  - Detection of mosaicism for 46,X,i(Y) (q10) in the blood lymphocytes in a 
      phenotypically normal male neonate with prenatally detected 45,X/46, XY at 
      amniocentesis and cytogenetic discrepancy in various tissues.
PG  - 873-875
LID - S1028-4559(22)00222-4 [pii]
LID - 10.1016/j.tjog.2022.07.002 [doi]
AB  - OBJECTIVE: We present detection of mosaicism for 46,X,i(Y) (q10) in the blood 
      lymphocytes in a phenotypically normal male neonate with prenatally detected 
      45,X/46, XY at amniocentesis and cytogenetic discrepancy in various tissues. CASE 
      REPORT: A 35-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 
      weeks of gestation because of advanced maternal age. Amniocentesis revealed a 
      karyotype of 45,X [8]/46,XY [15]. Simultaneous array comparative genomic 
      hybridization (aCGH) on uncultured amniocytes revealed the result of arr 
      (Y) x 0-1 with 25.493-Mb mosaic deletion of chromosome Yp11.31-q11.23. Prenatal 
      ultrasound findings were unremarkable. The fetus had normal male external 
      genitalia on fetal ultrasound. Following genetic counseling, the pregnancy was 
      carried to 38 weeks of gestation, and a phenotypically normal male baby was 
      delivered without any abnormalities of the male external genitalia. The cord 
      blood had a karyotypes of 46,X,i(Y) (q10)[8]/45,X[3]/46,XY [29], and placenta had 
      a karyotypes of 45,X [25]/46,X,i(Y) (q10)[7]/46,XY [8]. When follow-up at age two 
      months, the neonate was normal in development. The peripheral blood had a 
      karyotypes of 46,X,i(Y) (q10)[8]/45,X[5]/46,XY [27]. Interphase fluorescence in 
      situ hybridization (FISH) analysis on 101 buccal mucosal cells showed normal X 
      and Y signals in 101/101 cells. CONCLUSION: Fetuses with 45,X/46, XY at 
      amniocentesis can be associated with mosaicism for 46,X,i(Y) (q10) in the blood 
      lymphocytes, cytogenetic discrepancy in various tissues and a favorable outcome.
CI  - Copyright (c) 2022. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; 
      School of Chinese Medicine, College of Chinese Medicine, China Medical 
      University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, 
      National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of 
      Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung 
      University, Taipei, Taiwan; Department of Medical Laboratory Science and 
      Biotechnology, Asia University, Taichung, Taiwan. Electronic address: 
      cpc_mmh@yahoo.com.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wu, Fang-Tzu
AU  - Wu FT
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lee, Chen-Chi
AU  - Lee CC
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Wen-Lin
AU  - Chen WL
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Yun-Yi
AU  - Chen YY
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Wang, Wayseen
AU  - Wang W
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - *Amniocentesis
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Lymphocytes
MH  - Male
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis
OTO - NOTNLM
OT  - 45,X/46,XY
OT  - 46,X,i(Y) (q10)
OT  - Amniocentesis
OT  - Mosaicism
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2022/09/11 06:00
MHDA- 2022/09/14 06:00
CRDT- 2022/09/10 21:05
PHST- 2022/07/06 00:00 [accepted]
PHST- 2022/09/10 21:05 [entrez]
PHST- 2022/09/11 06:00 [pubmed]
PHST- 2022/09/14 06:00 [medline]
AID - S1028-4559(22)00222-4 [pii]
AID - 10.1016/j.tjog.2022.07.002 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Sep;61(5):873-875. doi: 10.1016/j.tjog.2022.07.002.