PMID- 22875493
OWN - NLM
STAT- MEDLINE
DCOM- 20121018
LR  - 20120809
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 29
IP  - 4
DP  - 2012 Aug
TI  - [Spectral karyotyping of seven prenatally detected marker chromosomes and complex 
      chromosome aberrations].
PG  - 393-7
LID - 10.3760/cma.j.issn.1003-9406.2012.04.004 [doi]
AB  - OBJECTIVE: To perform spectral karyotyping (SKY), fluorescence in situ 
      hybridization (FISH) and conventional karyotyping on prenatally detected marker 
      chromosomes and complex chromosomal aberrations. METHODS: Five marker chromosomes 
      and 2 complex chromosome aberrations diagnosed by G banding were collected. SKY 
      was performed to verify the composition of marker chromosomes. FISH was used to 
      confirm the diagnosis when necessary. In certain cases, C or N banding technique 
      was employed to verify the composition of chromosomes. Results of ultrasonography 
      and pregnancy outcome were reviewed. RESULTS: Among the 5 marker chromosomes, 2 
      were large and 3 were medium in size, 4 were de novo and one was inherited from 
      the father. By SKY analysis, 2 marker chromosomes have originated from 
      non-acrocentric chromosomes (4 and 9), whilst the other two have originated from 
      acrocentric chromosomes (21 and 22). The remainder was derived from X chromosome. 
      The SKY results were confirmed by FISH in 3 cases. Four cases have chosen to 
      terminate the pregnancy after genetic counseling. A fetus with inherited paternal 
      marker chromosome was delivered at term, and showed normal development during the 
      first year of life. As for the other 2 cases with complex chromosome aberrations, 
      by SKY examination, one had duplication in chromosome 8 and the other had 
      chromosome rearrangements derived from translocation between chromosomes 2 and 6. 
      In the latter case the fetus was delivered at term but showed developmental 
      retardation at 6 months. CONCLUSION: SKY in combination with FISH can facilitate 
      identification of the origins of marker chromosomes as well as complex 
      chromosomal aberrations. With combined information from ultrasonography, SKY and 
      FISH, effective counseling may be offered to the patients.
FAU - Song, Hua-lei
AU  - Song HL
AD  - Department of Obstetrics and Gynecology, the Affiliated Hospital of Binzhou 
      Medical University, Binzhou, Shandong, People's Republic of China.
FAU - Chen, Bao-jiang
AU  - Chen BJ
FAU - Fang, Qun
AU  - Fang Q
FAU - Xie, Ying-jun
AU  - Xie YJ
FAU - Lin, Shao-bin
AU  - Lin SB
FAU - Wu, Jian-zhu
AU  - Wu JZ
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - 0 (Genetic Markers)
SB  - IM
MH  - *Chromosome Aberrations
MH  - Chromosome Banding/methods
MH  - Chromosome Disorders/*genetics
MH  - Female
MH  - Genetic Counseling/methods
MH  - Genetic Markers/*genetics
MH  - Humans
MH  - Male
MH  - Pregnancy
MH  - Spectral Karyotyping/*methods
EDAT- 2012/08/10 06:00
MHDA- 2012/10/19 06:00
CRDT- 2012/08/10 06:00
PHST- 2012/08/10 06:00 [entrez]
PHST- 2012/08/10 06:00 [pubmed]
PHST- 2012/10/19 06:00 [medline]
AID - 940629092 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2012.04.004 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):393-7. doi: 
      10.3760/cma.j.issn.1003-9406.2012.04.004.