PMID- 21199754
OWN - NLM
STAT- MEDLINE
DCOM- 20110427
LR  - 20161125
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 49
IP  - 4
DP  - 2010 Dec
TI  - Prenatal diagnosis and molecular cytogenetic characterization of a small 
      supernumerary marker chromosome derived from chromosome 8.
PG  - 500-5
LID - 10.1016/S1028-4559(10)60104-0 [doi]
AB  - OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic 
      characterization of a small supernumerary marker chromosome (sSMC) derived from 
      chromosome 8 by multiplex ligation-dependent probe amplification (MLPA), 
      fluorescence in situ hybridization (FISH), spectral karyotyping (SKY) and array 
      comparative genomic hybridization (aCGH). CASE REPORT: A 42-year-old woman, 
      gravida 6, para 3, underwent amniocentesis at 19 gestational weeks because of 
      advanced maternal age. Amniocentesis revealed a de novo ring-shaped sSMC in all 
      13 colonies of the amniocytes. The karyotype was 47,XY,+mar. The MLPA showed 
      duplications of 8p11.21-specific probes. At 24 gestational weeks, level II 
      ultrasound revealed a left multicystic kidney in the fetus. Other internal organs 
      were unremarkable. Repeat amniocentesis revealed a karyotype of 
      47,XY,+mar[25]/46,XY[2]. The sSMC was characterized by SKY and FISH, which showed 
      a chromosome 8 origin of the sSMC. Oligonucleotide-based aCGH demonstrated a 
      4.4-Mb duplication of 8p11.21q11.1 [arr cgh 8p11.21q11.1 
      (42,637,263-47,062,180)x3]. The karyotype was 47,XY,+r(8) 
      (p11.21q11.1)[25]/46,XY[2]. Polymorphic DNA marker analysis revealed no 
      uniparental disomy for chromosome 8. The woman elected to continue the pregnancy 
      and at 34 gestational weeks, a 1,820 g male baby without craniofacial dysmorphism 
      was delivered. At the age of 1 month, the infant was apparently normal except for 
      left multicystic kidney disease and mild ventriculomegaly. CONCLUSION: MLPA, SKY 
      and aCGH are helpful in genetic counseling of prenatally detected sSMCs by 
      providing the immediate information on the origin and the genetic contents of the 
      sSMC.
CI  - Copyright A(c) 2010 Taiwan Association of Obstetric & Gynecology. Published by 
      Elsevier B.V. All rights reserved.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Changhua, 
      Taiwan. cpc_mmh@yahoo.com
FAU - Chen, Ming
AU  - Chen M
FAU - Ko, Tsang-Ming
AU  - Ko TM
FAU - Ma, Gwo-Chin
AU  - Ma GC
FAU - Tsai, Fuu-Jen
AU  - Tsai FJ
FAU - Tsai, Ming-Song
AU  - Tsai MS
FAU - Wu, Pei-Chen
AU  - Wu PC
FAU - Lee, Chen-Chi
AU  - Lee CC
FAU - Chen, Li-Feng
AU  - Chen LF
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  - Amniocentesis
MH  - *Chromosome Duplication
MH  - *Chromosomes, Human, Pair 8
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetal Diseases/*diagnosis/diagnostic imaging/*genetics
MH  - Humans
MH  - Hydrocephalus/diagnostic imaging
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Maternal Age
MH  - Molecular Probe Techniques
MH  - Polycystic Kidney Diseases/diagnostic imaging
MH  - Pregnancy
MH  - Sequence Analysis, DNA
MH  - Spectral Karyotyping
MH  - Ultrasonography, Prenatal
EDAT- 2011/01/05 06:00
MHDA- 2011/04/28 06:00
CRDT- 2011/01/05 06:00
PHST- 2010/07/22 00:00 [accepted]
PHST- 2011/01/05 06:00 [entrez]
PHST- 2011/01/05 06:00 [pubmed]
PHST- 2011/04/28 06:00 [medline]
AID - S1028-4559(10)60104-0 [pii]
AID - 10.1016/S1028-4559(10)60104-0 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2010 Dec;49(4):500-5. doi: 
      10.1016/S1028-4559(10)60104-0.