PMID- 34238319
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210712
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 14
IP  - 1
DP  - 2021 Jul 8
TI  - Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) 
      in the four generation pedigree with intellectual disability/developmental delay.
PG  - 35
LID - 10.1186/s13039-021-00552-3 [doi]
LID - 35
AB  - Chromosomal copy number variants (CNVs) are an important cause of congenital 
      malformations and mental retardation. This study reported a large Chinese 
      pedigree (4-generation, 76 members) with mental retardation caused by chromosome 
      microduplication/microdeletion. There were 10 affected individuals with 
      intellectual disability (ID), developmental delay (DD), and language delay 
      phenotypes. SNP array analysis was performed in the proband and eight patients 
      and found all of them had a microduplication of chromosome 4p16.3p15.2 and a 
      microdeletion of chromosome 8p23.3p23.2. The high-resolution karyotyping analysis 
      of the proband had unbalanced karyotype [46, XY, der(8)t(4;8)(p15.2;p23.1)mat], 
      his mother had balanced karyotype [46, XX, t(4;8) (p15.2;p23.1)], whereas his 
      father had normal karyotype [46,XY]. Fluorescence in situ hybridization (FISH) 
      analysis further confirmed that the proband's mother had a balanced translocation 
      between the short arm terminal segment of chromosome 4 and the short arm end 
      segment of chromosome 8, ish t(4;8)(8p + ,4q + ;4p + ,8q +). In conclusion, all 
      the patients inherited chromosomes 8 with 4p16.3p15.2 duplication and 8p23.3p23.2 
      deletion from their parental balanced translocation, which might be the cause of 
      the prevalence of intellectual disability. Meanwhile, 8p23.3p23.2 deletion, 
      rather than 4p16.3p15.2 duplication might cause a more severe clinical syndrome.
FAU - Hao, Dongmei
AU  - Hao D
AD  - Department of Reproductive Medicine Center, General Hospital of Northern Theater 
      Command, Shenyang, Liaoning, 110016, People's Republic of China.
AD  - General Hospital of Northern Theater Command, Postgraduate Training Base of 
      Jinzhou Medical University, No. 83. Wenhua Road, Shenhe District, Shenyang, 
      Liaoning, 110016, People's Republic of China.
FAU - Li, Yajuan
AU  - Li Y
AD  - General Hospital of Northern Theater Command, Postgraduate Training Base of 
      Jinzhou Medical University, No. 83. Wenhua Road, Shenhe District, Shenyang, 
      Liaoning, 110016, People's Republic of China.
FAU - Chen, Lisha
AU  - Chen L
AD  - Department of Reproductive Medicine Center, General Hospital of Northern Theater 
      Command, Shenyang, Liaoning, 110016, People's Republic of China.
FAU - Wang, Xiliang
AU  - Wang X
AD  - Department of Reproductive Medicine Center, General Hospital of Northern Theater 
      Command, Shenyang, Liaoning, 110016, People's Republic of China.
FAU - Wang, Mengxing
AU  - Wang M
AD  - Department of Reproductive Medicine Center, General Hospital of Northern Theater 
      Command, Shenyang, Liaoning, 110016, People's Republic of China.
FAU - Yu, Yuexin
AU  - Yu Y
AD  - Department of Reproductive Medicine Center, General Hospital of Northern Theater 
      Command, Shenyang, Liaoning, 110016, People's Republic of China. 
      yuyuexinpingan@126.com.
AD  - General Hospital of Northern Theater Command, Postgraduate Training Base of 
      Jinzhou Medical University, No. 83. Wenhua Road, Shenhe District, Shenyang, 
      Liaoning, 110016, People's Republic of China. yuyuexinpingan@126.com.
LA  - eng
GR  - 20180551228/Nature Science Foundation of Liaoning Province/
PT  - Journal Article
DEP - 20210708
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC8268195
OTO - NOTNLM
OT  - 4p duplication
OT  - 8p deletion
OT  - Inherited
OT  - Intellectual disability
OT  - Single-nucleotide polymorphism
COIS- The authors declare that they have no competing interests
EDAT- 2021/07/10 06:00
MHDA- 2021/07/10 06:01
PMCR- 2021/07/08
CRDT- 2021/07/09 05:46
PHST- 2020/04/21 00:00 [received]
PHST- 2021/04/19 00:00 [accepted]
PHST- 2021/07/09 05:46 [entrez]
PHST- 2021/07/10 06:00 [pubmed]
PHST- 2021/07/10 06:01 [medline]
PHST- 2021/07/08 00:00 [pmc-release]
AID - 10.1186/s13039-021-00552-3 [pii]
AID - 552 [pii]
AID - 10.1186/s13039-021-00552-3 [doi]
PST - epublish
SO  - Mol Cytogenet. 2021 Jul 8;14(1):35. doi: 10.1186/s13039-021-00552-3.