PMID- 23040927
OWN - NLM
STAT- MEDLINE
DCOM- 20130317
LR  - 20121008
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 51
IP  - 3
DP  - 2012 Sep
TI  - Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a 
      small supernumerary marker chromosome derived from ring chromosome 2.
PG  - 411-7
LID - S1028-4559(12)00131-3 [pii]
LID - 10.1016/j.tjog.2012.07.017 [doi]
AB  - OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic 
      characterization of mosaicism for a small supernumerary marker chromosome (sSMC) 
      derived from ring chromosome 2 [r(2)]. METHODS AND RESULTS: A 35-year-old woman 
      underwent amniocentesis at 17 weeks of gestation, because of advanced maternal 
      age. Amniocentesis revealed a de novo ring-shaped sSMC in 11 of 23 colonies of 
      cultured amniocytes. Repeated amniocenteses were made. The sSMC was characterized 
      by array comparative genomic hybridization (aCGH), interphase fluorescence in 
      situ hybridization (FISH) and quantitative fluorescent polymerase chain reaction 
      (QF-PCR) on uncultured amniocytes. In uncultured amniocytes, aCGH showed a 
      39.49-Mb genomic gain in chromosome 2 encompassing 2q11.2-->q21.2, interphase FISH 
      revealed a mosaic level of 52% (52/100 cells), and QF-PCR manifested a diallelic 
      pattern for chromosome 2, with gene dosage increase in the paternal allele of 
      proximal 2q-specific DNA markers. In cultured amniocytes, the sSMC was 
      characterized by metaphase FISH, spectral karyotyping (SKY) and multicolor 
      banding (MCB) to contain the centromere and proximal 2q, and the karyotype was 
      47,XX,+r(2)(p11.1q21.2)[14]/46,XX[11]. The pregnancy was terminated. The fetus 
      postnatally manifested facial dysmorphisms. Postnatal cytogenetic analyses 
      revealed the karyotypes of 47,XX,+r(2)[12]/46,XX[28] in cord blood, 
      47,XX,+r(2)[7]/46,XX[33] in umbilical cord, 47,XX,+r(2)[13]/47,XX,+idic 
      r(2)[3]/46,XX[24] in placenta and 47,XX,+r(2)[8]/47,XX,+idic r(2)[1]/46,XX[31] in 
      amnion. CONCLUSION: Molecular cytogenetic techniques such as aCGH, interphase 
      FISH and QF-PCR on uncultured amniocytes, and SKY, MCB and metaphase FISH on 
      cultured amniocytes are useful for characterization of the nature of a prenatally 
      detected sSMC.
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 - Chen, Ming
AU  - Chen M
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Wu, Peih-Shan
AU  - Wu PS
FAU - Chang, Shun-Ping
AU  - Chang SP
FAU - Lee, Dong-Jay
AU  - Lee DJ
FAU - Chen, Yu-Ting
AU  - Chen YT
FAU - Chen, Li-Feng
AU  - Chen LF
FAU - Su, Jun-Wei
AU  - Su JW
FAU - Hwa-Ruey Hsieh, Alan
AU  - Hwa-Ruey Hsieh A
FAU - Hwa-Jiun Hsieh, Alex
AU  - Hwa-Jiun Hsieh A
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
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosome Aberrations
MH  - Chromosome Disorders/*diagnosis/genetics
MH  - *Chromosomes, Human, Pair 2
MH  - Comparative Genomic Hybridization
MH  - Craniofacial Abnormalities/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - *Mosaicism
MH  - Polymerase Chain Reaction/methods
MH  - Pregnancy
EDAT- 2012/10/09 06:00
MHDA- 2013/03/19 06:00
CRDT- 2012/10/09 06:00
PHST- 2012/05/25 00:00 [accepted]
PHST- 2012/10/09 06:00 [entrez]
PHST- 2012/10/09 06:00 [pubmed]
PHST- 2013/03/19 06:00 [medline]
AID - S1028-4559(12)00131-3 [pii]
AID - 10.1016/j.tjog.2012.07.017 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2012 Sep;51(3):411-7. doi: 10.1016/j.tjog.2012.07.017.