PMID- 21791306
OWN - NLM
STAT- MEDLINE
DCOM- 20120105
LR  - 20120910
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 50
IP  - 2
DP  - 2011 Jun
TI  - Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a 
      small supernumerary marker chromosome derived from ring chromosome 4.
PG  - 188-95
LID - 10.1016/j.tjog.2011.04.002 [doi]
AB  - OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic 
      characterization of mosaicism for a small supernumerary marker chromosome (sSMC) 
      derived from ring chromosome, or r(4) by spectral karyotyping (SKY), fluorescence 
      in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). 
      MATERIALS, METHODS, AND RESULTS: A 37-year-old, primigravid woman underwent 
      amniocentesis at 18 weeks of gestation because of advanced maternal age. 
      Amniocentesis revealed a de novo ring-shaped sSMC in 16 of 31 amniocyte colonies. 
      The parental karyotypes were normal. Level II ultrasound findings were 
      unremarkable. Repeated amniocentesis revealed a karyotype of 
      47,XX,+mar[17]/46,XX[19]. The sSMC was characterized by SKY and FISH, which 
      showed a chromosome 4 origin of the sSMC. aCGH demonstrated a 21.7-Mb gain in the 
      gene dosage encompassing the region of 4p12-->q13.2. The sSMC was r(4)(p12q13.2). 
      The fetal karyotype was 47,XX,+r(4)(p12q13.2)[17]/46,XX[19]. The pregnancy was 
      subsequently terminated. The fetus postnatally manifested hypertelorism, 
      epicanthic folds, a prominent nose, a triangular face, low-set ears, clinodactyly 
      of the fingers, and small big toes. Postnatal cytogenetic analyses of fetal and 
      extraembryonic tissues revealed the karyotypes of 47,XX,+r(4)[18]/46,XX[21] in 
      cord blood, 47,XX,+r(4)[20]/48,XX,+r(4),+r(4)[1]/46,XX[9] in umbilical cord, 
      47,XX,+r(4)[14]/47,XX,+dic r(4)[1]/46,XX[25] in skin, 47,XX,+r(4)[15]/46,XX[25] 
      in amnion, and 47,XX,+r(4)[12]/47,XX,+dic r(4)[1]/46,XX[2] in placenta. 
      CONCLUSION: SKY, FISH, and aCGH are helpful in genetic counseling of prenatally 
      detected sSMCs by providing the immediate and thorough information on the origin 
      and genetic component of the sSMC.
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 - Chen, Ming
AU  - Chen M
FAU - Su, Yi-Ning
AU  - Su YN
FAU - Tsai, Fuu-Jen
AU  - Tsai FJ
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Wu, Pei-Chen
AU  - Wu PC
FAU - Chen, Wen-Lin
AU  - Chen WL
FAU - Chen, Li-Feng
AU  - Chen LF
FAU - Pan, Chen-Wen
AU  - Pan CW
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  - 0 (Genetic Markers)
RN  - Ring chromosome 4 syndrome
SB  - IM
MH  - *Abnormalities, Multiple
MH  - Abortion, Induced
MH  - Adult
MH  - Chromosome Disorders/*diagnosis/*genetics
MH  - Chromosomes, Human, Pair 4/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Ring Chromosomes
MH  - Spectral Karyotyping
EDAT- 2011/07/28 06:00
MHDA- 2012/01/06 06:00
CRDT- 2011/07/28 06:00
PHST- 2010/12/28 00:00 [accepted]
PHST- 2011/07/28 06:00 [entrez]
PHST- 2011/07/28 06:00 [pubmed]
PHST- 2012/01/06 06:00 [medline]
AID - S1028-4559(11)00099-4 [pii]
AID - 10.1016/j.tjog.2011.04.002 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2011 Jun;50(2):188-95. doi: 10.1016/j.tjog.2011.04.002.