PMID- 31598942
OWN - NLM
STAT- MEDLINE
DCOM- 20191031
LR  - 20191031
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 10
DP  - 2019 Oct 10
TI  - [Phenotypic and genetic analysis of a pedigree with 4p16 microduplication and 
      8p23 microdeletion].
PG  - 989-992
LID - 10.3760/cma.j.issn.1003-9406.2019.10.009 [doi]
AB  - OBJECTIVE: To explore the nature and origin of chromosomal copy number variants 
      (CNVs) in a pedigree affected with mental retardation. METHODS: Genomic CNVs of 
      the proband were analyzed by next generation sequencing (NGS). Chromosomal 
      karyotypes of the proband and his relatives were analyzed with high-resolution 
      karyotyping and fluorescence in situ hybridization (FISH). RESULTS: Clinical 
      phenotypes of the proband and other patients from the pedigree included mental 
      retardation and mild dysmorphism. The results of NGS revealed that the proband 
      carried a 16.24 Mb microduplication at 4p16.3-15.32 and a 2.2 Mb microdeletion at 
      8p23.3-23.2. Other patients of the pedigree harbored the same variants, while 
      those without the phenotypes did not harbor the variants. The results of 
      high-resolution karyotyping and FISH revealed that the mother of the proband 
      carried a reciprocal translocation between 4p and 8p, and her karyotype was 
      46,XX,t(4;8)(p16;p23). No karyotypic abnormality was detected in his father. 
      CONCLUSION: The abnormal phenotypes of this pedigree may be attributed to 4p 
      microduplication in conjunct with 8p microdeletion derived from a maternal 
      balanced translocation between 4p and 8p.
FAU - Li, Chuang
AU  - Li C
AD  - Department of Gynecology & Obstetrics, Shengjing Hospital Affiliated to China 
      Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning 
      Province, Shenyang, Liaoning 110004, China. hawk.lv@163.com.
FAU - Hou, Rui
AU  - Hou R
FAU - Liu, Caixia
AU  - Liu C
FAU - Li, Ling Jesse
AU  - Li LJ
FAU - Lyu, Yuan
AU  - Lyu Y
LA  - chi
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
SB  - IM
MH  - *Chromosome Aberrations
MH  - *Chromosome Duplication
MH  - Chromosomes, Human, Pair 4
MH  - Chromosomes, Human, Pair 8
MH  - Female
MH  - *Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Pedigree
MH  - Phenotype
EDAT- 2019/10/11 06:00
MHDA- 2019/11/02 06:00
CRDT- 2019/10/11 06:00
PHST- 2019/10/11 06:00 [entrez]
PHST- 2019/10/11 06:00 [pubmed]
PHST- 2019/11/02 06:00 [medline]
AID - 940636209 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.10.009 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):989-992. doi: 
      10.3760/cma.j.issn.1003-9406.2019.10.009.