PMID- 25752286
OWN - NLM
STAT- MEDLINE
DCOM- 20150625
LR  - 20150406
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 563
IP  - 1
DP  - 2015 May 25
TI  - A very rare case of trisomy 4q32.3-4q35.2 and trisomy 21q11.2-21q22.11 in a 
      patient with recombinant chromosomes 4 and 21.
PG  - 72-5
LID - S0378-1119(15)00271-1 [pii]
LID - 10.1016/j.gene.2015.03.006 [doi]
AB  - We report the case of a patient with a clinical phenotype consistent with Down 
      Syndrome (DS) who has a novel karyotypic abnormality. Karyotypic analyses were 
      performed to investigate the cause of two spontaneous abortions. A balanced 
      translocation between chromosomes 4 and 21 was identified, along with an 
      additional abnormal chromosome 21. We performed high-resolution banding, 
      comparative genomic hybridization (CGH), and FISH studies in both the patient and 
      her mother to define the abnormality and determine its origin. CGH revealed a 
      gain in copy number on the long arm of chromosome 4, spanning at least 24.4 Mb, 
      and a gain in copy number on the long arm of chromosome 21, spanning at least 
      16.2 Mb. FISH analysis using a chromosome 21 centromere probe and chromosome 4 
      long arm telomere (4pter) probe confirmed the origin of the marker chromosome. It 
      has been confirmed by the State Key Laboratory of Medical Genetics of China that 
      this is the first reported instance of the karyotype 
      47,XX,t(4;21)(q31.3;q11.2),+der(21)t(4;21)mat reported in the world.
CI  - Copyright (c) 2015 Elsevier B.V. All rights reserved.
FAU - Chen, Li-Sha
AU  - Chen LS
AD  - Aristogenesis Center, No. 202 Hospital of PLA, Shenyang 110003, PR China.
FAU - Xue, Dan
AU  - Xue D
AD  - Aristogenesis Center, No. 202 Hospital of PLA, Shenyang 110003, PR China.
FAU - Xi, Zuo-Ming
AU  - Xi ZM
AD  - Genetic disease laboratory, DongChang Maternal and Child Health Hospital, 
      LiaoCheng 252000, PR China.
FAU - Liu, Dan-Na
AU  - Liu DN
AD  - Aristogenesis Center, No. 202 Hospital of PLA, Shenyang 110003, PR China.
FAU - Zou, Peng-Shu
AU  - Zou PS
AD  - Aristogenesis Center, No. 202 Hospital of PLA, Shenyang 110003, PR China.
FAU - Ma, Ming
AU  - Ma M
AD  - Aristogenesis Center, No. 202 Hospital of PLA, Shenyang 110003, PR China.
FAU - Xia, Ying
AU  - Xia Y
AD  - Aristogenesis Center, No. 202 Hospital of PLA, Shenyang 110003, PR China.
FAU - Chen, Xia-Hui
AU  - Chen XH
AD  - Aristogenesis Center, No. 202 Hospital of PLA, Shenyang 110003, PR China.
FAU - Qiu, Guang-Bin
AU  - Qiu GB
AD  - Department of Laboratory Medicine, No. 202 Hospital of PLA, Shenyang 110003, PR 
      China.
FAU - Cao, Dong-Hua
AU  - Cao DH
AD  - Aristogenesis Center, No. 202 Hospital of PLA, Shenyang 110003, PR China. 
      Electronic address: dhcao427@sina.com.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150306
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - Chromosome 4, trisomy 4q
SB  - IM
MH  - Abortion, Spontaneous/genetics
MH  - Chromosomes, Human, Pair 4/genetics
MH  - Comparative Genomic Hybridization
MH  - Down Syndrome/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Recombination, Genetic
MH  - Trisomy/*genetics
MH  - Young Adult
OTO - NOTNLM
OT  - CGH
OT  - FISH
OT  - Trisomy 21q11.2-21q22.11
OT  - Trisomy 4q32.3-4q35.2
EDAT- 2015/03/11 06:00
MHDA- 2015/06/26 06:00
CRDT- 2015/03/11 06:00
PHST- 2014/10/06 00:00 [received]
PHST- 2015/01/15 00:00 [revised]
PHST- 2015/03/04 00:00 [accepted]
PHST- 2015/03/11 06:00 [entrez]
PHST- 2015/03/11 06:00 [pubmed]
PHST- 2015/06/26 06:00 [medline]
AID - S0378-1119(15)00271-1 [pii]
AID - 10.1016/j.gene.2015.03.006 [doi]
PST - ppublish
SO  - Gene. 2015 May 25;563(1):72-5. doi: 10.1016/j.gene.2015.03.006. Epub 2015 Mar 6.