PMID- 22482973
OWN - NLM
STAT- MEDLINE
DCOM- 20120827
LR  - 20120409
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 51
IP  - 1
DP  - 2012 Mar
TI  - Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR, and aCGH analyses 
      on uncultured amniocytes for rapid distinguishing of true mosaicism from 
      pseudomosaicism.
PG  - 77-82
LID - 10.1016/j.tjog.2012.01.015 [doi]
AB  - OBJECTIVE: To present prenatal diagnosis of true trisomy 7 mosaicism. MATERIALS, 
      METHODS AND RESULTS: A 36-year-old woman underwent amniocentesis at 18 weeks of 
      gestation. Amniocentesis revealed a karyotype of 47,XY,+7[20]/46,XY[9]. The 
      parental karyotypes were normal. Repeated amniocentesis was performed at 20 weeks 
      of gestation. Array comparative genomic hybridization (aCGH) analysis on 
      uncultured amniocytes manifested a genomic gain in chromosome 7. Quantitative 
      fluorescent polymerase chain reaction (QF-PCR) analysis on uncultured amniocytes 
      showed a biparental diallelic pattern with a dosage increase in the maternal 
      allele. Interphase fluorescence in situ hybridization (FISH) on uncultured 
      amniocytes revealed three 7q-specific signals in 13 of 50 (26%) of the cells. The 
      cultured amniocytes had a karyotype of 47,XY,+7[12]/46,XY[14]. The ultrasound 
      findings were unremarkable. The pregnancy was subsequently terminated, and a 
      fetus was delivered with facial dysmorphisms. Postnatal tissue samplings revealed 
      the mosaic trisomy 7 level of 37.5% (15/40), 30% (12/40), 42.5% (17/40), 82.5% 
      (33/40), 52.5% (21/40), and 27.5% (11/40) in skin, liver, lungs, placenta, 
      membrane, and cord, respectively. The cord blood had a karyotype of 46,XY. 
      PEG1/MEST methylation-sensitive high-resolution melting PCR assay of cord blood 
      showed no uniparental disomy for chromosome 7. CONCLUSION: Interphase FISH, 
      QF-PCR, and aCGH analyses on uncultured amniocytes are useful for rapid 
      distinguishing of true mosaicism from pseudomosaicism for trisomy 7 at 
      amniocentesis. Cord blood sampling for confirmation of fetal trisomy 7 mosaicism 
      is not practical.
CI  - Copyright (c) 2012. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. 
      cpc_mmh@yahoo.com
FAU - Huang, Hsu-Kuang
AU  - Huang HK
FAU - Su, Yi-Ning
AU  - Su YN
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Su, Jun-Wei
AU  - Su JW
FAU - Lee, Chen-Chi
AU  - Lee CC
FAU - Town, Dai-Dyi
AU  - Town DD
FAU - Chen, Wen-Lin
AU  - Chen WL
FAU - Chen, Yu-Ting
AU  - Chen YT
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 7, trisomy mosaic
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Chromosomes, Human, Pair 7/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Karyotype
MH  - Mosaicism
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Trisomy/*diagnosis/*genetics
MH  - Uniparental Disomy/*diagnosis/*genetics
EDAT- 2012/04/10 06:00
MHDA- 2012/08/28 06:00
CRDT- 2012/04/10 06:00
PHST- 2011/10/25 00:00 [accepted]
PHST- 2012/04/10 06:00 [entrez]
PHST- 2012/04/10 06:00 [pubmed]
PHST- 2012/08/28 06:00 [medline]
AID - S1028-4559(12)00016-2 [pii]
AID - 10.1016/j.tjog.2012.01.015 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2012 Mar;51(1):77-82. doi: 10.1016/j.tjog.2012.01.015.