PMID- 22212323
OWN - NLM
STAT- MEDLINE
DCOM- 20121001
LR  - 20161125
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 50
IP  - 4
DP  - 2011 Dec
TI  - A de novo duplication of chromosome 21q22.11-->qter associated with Down syndrome: 
      prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound 
      findings.
PG  - 492-8
LID - 10.1016/j.tjog.2011.10.016 [doi]
AB  - OBJECTIVES: To present prenatal diagnosis and molecular cytogenetic 
      characterization of de novo partial partial trisomy 21q (21q22.11-->qter) 
      associated with clinodactyly and hypoplastic midphalanx of the fifth fingers, 
      midface hypoplasia, and an intracardiac echogenic focus on prenatal ultrasound. 
      MATERIALS, METHODS, AND RESULTS: A 34-year-old gravida 2, para 1 woman underwent 
      amniocentesis at 20 weeks of gestation because of fetal structural abnormalities 
      on prenatal ultrasound. A level II ultrasound at 20 weeks of gestation showed 
      polyhydramnios, clinodactyly and hypoplastic midphalanx of the fifth fingers, 
      midface hypoplasia, and an intracardiac echogenic focus. Amniocentesis revealed 
      an aberrant derivative chromosome 9, or der(9). Parental karyotypes were normal. 
      Spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) analyses 
      revealed that the der(9) contained a segment of chromosome 21 distal to 
      chromosome 9q, and FISH analysis additionally showed that the distal subtelomeric 
      region of 9q was not deleted. Array comparative genomic hybridization (aCGH) 
      demonstrated a 14.8-Mb duplication of distal 21q encompassing the Down syndrome 
      critical region (DSCR) but no genomic imbalance in the distal euchromatic region 
      of chromosome 9. The karyotype was 46,XX,der(9)t(9;21) (q34.3;q22.11)dn. 
      Polymorphic DNA marker analysis revealed the maternal origin of the aberrant 
      chromosome. The pregnancy was subsequently terminated. A malformed female fetus 
      was delivered with a characteristic phenotype of Down syndrome. CONCLUSION: SKY, 
      FISH and aCGH are useful in prenatal investigation of the nature of a de novo 
      aberrant derivative chromosome. Partial trisomy 21q encompassing the DSCR may 
      present characteristic Down syndrome features on prenatal ultrasound.
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.
FAU - Huang, Hsu-Kuang
AU  - Huang HK
FAU - Ling, Pei-Ying
AU  - Ling PY
FAU - Su, Yi-Ning
AU  - Su YN
FAU - Chen, Ming
AU  - Chen M
FAU - Tsai, Fuu-Jen
AU  - Tsai FJ
FAU - Wu, Pei-Chen
AU  - Wu PC
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Chen, Yu-Ting
AU  - Chen YT
FAU - Lee, Chen-Chi
AU  - Lee CC
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  - Abortion, Eugenic
MH  - Adult
MH  - *Amniocentesis
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Down Syndrome/diagnosis/diagnostic imaging/*genetics
MH  - Female
MH  - Fetal Diseases/*diagnosis/genetics
MH  - *Genetic Testing
MH  - Humans
MH  - Pregnancy
MH  - *Ultrasonography, Prenatal
EDAT- 2012/01/04 06:00
MHDA- 2012/10/02 06:00
CRDT- 2012/01/04 06:00
PHST- 2010/11/30 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)00175-6 [pii]
AID - 10.1016/j.tjog.2011.10.016 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2011 Dec;50(4):492-8. doi: 10.1016/j.tjog.2011.10.016.