PMID- 22212322
OWN - NLM
STAT- MEDLINE
DCOM- 20121001
LR  - 20120103
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 50
IP  - 4
DP  - 2011 Dec
TI  - Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular 
      cytogenetic diagnosis using cultured and uncultured amniocytes and association 
      with fetoplacental discrepancy.
PG  - 485-91
LID - 10.1016/j.tjog.2011.10.015 [doi]
AB  - OBJECTIVE: To present prenatal molecular cytogenetic diagnosis of mosaicism for 
      terminal 3p deletion and distal 3q duplication using cultured and uncultured 
      amniocytes, and the association with fetoplacental discrepancy. MATERIALS, 
      METHODS, AND RESULTS: A 35-year-old primigravid woman was referred for genetic 
      counseling at 21 weeks of gestation because of 20% (5/25 colonies) mosaicism for 
      add(3)(p26) detected by amniocentesis. Repeated amniocenteses were performed. 
      Array comparative genomic hybridization (aCGH) and interphase fluorescence in 
      situ hybridization (FISH) were applied in the uncultured amniocytes. aCGH 
      analysis detected 0.15-Mb microdeletion of 3p26.3 with CHL1 haploinsufficiency 
      and a 49.42-Mb duplication of 3q24-q29 in the uncultured amniocytes. Interphase 
      FISH analysis revealed 27.3% mosaicism (12/44 cells) in the uncultured 
      amniocytes. Metaphase FISH analysis revealed 23.3% mosaicism (7/30 cells) in the 
      cultured amniocytes. Conventional cytogenetic analysis showed a karyotype of 
      46,XX,der(3)(qter --> q24::p26.3 --> qter)[10]/46,XX[20] (33% mosaicism). Subsequent 
      fetal blood sampling showed a karyotype of 46,XX,der(3) 
      (qter-->q24::p26.3-->qter)[5]/46,XX[35] (12.5% mosaicism). The parents elected to 
      terminate the pregnancy, and a malformed fetus was delivered at 24 weeks of 
      gestation with characteristic facial dysmorphism and clinodactyly of the hands. 
      Cytogenetic analysis of the extraembryonic tissues revealed the results of 46,XX 
      (40 cells) in placenta, 25% mosaicism (10/40 cells) in amniotic membrane and 50% 
      mosaicism (20/40 cells) in umbilical cord. CONCLUSION: Our presentation 
      highlights the utility of molecular cytogenetic technologies in prenatal 
      diagnosis of rare mosaic chromosome rearrangements and provides evidence for 
      fetoplacental discrepancy under such circumstances.
CI  - Copyright (c) 2011. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan. cpc_mmh@yahoo.com
FAU - Su, Yi-Ning
AU  - Su YN
FAU - Hsu, Chin-Yuan
AU  - Hsu CY
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Lee, Chen-Chi
AU  - Lee CC
FAU - Chen, Yu-Ting
AU  - Chen YT
FAU - Chen, Wen-Lin
AU  - Chen WL
FAU - Wang, Wayseen
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 3, monosomy 3p2
RN  - Chromosome 3, trisomy 3q
SB  - IM
MH  - Abortion, Eugenic
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosome Deletion
MH  - Chromosome Disorders/*diagnosis
MH  - Chromosomes, Human, Pair 3
MH  - Female
MH  - Fetal Diseases/*diagnosis/genetics
MH  - *Genetic Testing
MH  - Humans
MH  - *Mosaicism
MH  - Pregnancy
MH  - *Trisomy
EDAT- 2012/01/04 06:00
MHDA- 2012/10/02 06:00
CRDT- 2012/01/04 06:00
PHST- 2011/08/15 00:00 [accepted]
PHST- 2012/01/04 06:00 [entrez]
PHST- 2012/01/04 06:00 [pubmed]
PHST- 2012/10/02 06:00 [medline]
AID - S1028-4559(11)00174-4 [pii]
AID - 10.1016/j.tjog.2011.10.015 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2011 Dec;50(4):485-91. doi: 10.1016/j.tjog.2011.10.015.