PMID- 31544782
OWN - NLM
STAT- MEDLINE
DCOM- 20200214
LR  - 20200225
IS  - 0973-7731 (Electronic)
IS  - 0022-1333 (Linking)
VI  - 98
DP  - 2019 Sep
TI  - Developmental retardation due to paternal 5q/11q translocation in a Chinese 
      infant: clinical, chromosomal and microarray characterization.
LID - 77 [pii]
AB  - Although it is known that the parental carriers of chromosomal translocation are 
      considered to be at high risk for spontaneous abortion and embryonic death, 
      normal gestation and delivery remain possible. This study aims to investigate the 
      genetic factors of a Chinese infant with multiple malformations and severe 
      postnatal development retardation. In this study, the routine cytogenetic 
      analysis, chromosomal microarray analysis (CMA) and fluorescence in situ 
      hybridization (FISH) analysis were performed. Conventional karyotype analyses 
      revealed normal karyotypes of all family members. CMA of the DNA of the proband 
      revealed a 8.3 Mb duplication of 5q35.1-qter and a 6.9 Mb deletion of 
      11q24.3-qter. FISH analyses verified a paternal tiny translocation between the 
      long arm of chromosomes 5 and 11. Our investigation serves to provide important 
      information on genetic counselling for the patient and future pregnancies in this 
      family. Moreover, the combined use of CMA and FISH is effective for clarifying 
      pathogenically submicroscopic copy number variants.
FAU - Zhao, Xiangyu
AU  - Zhao X
AD  - Department of Medical Genetics, Linyi People's Hospital, Linyi 276003, Shandong, 
      People's Republic of China. lilinxy1996@163.com.
FAU - Xu, Hongyan
AU  - Xu H
FAU - Zhao, Chen
AU  - Zhao C
FAU - Li, Lin
AU  - Li L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - India
TA  - J Genet
JT  - Journal of genetics
JID - 2985113R
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Chromosome Deletion
MH  - Chromosome Duplication/genetics
MH  - *Chromosomes, Human, Pair 11
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Cytogenetic Analysis
MH  - Developmental Disabilities/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
MH  - Microarray Analysis
MH  - *Translocation, Genetic
MH  - Trisomy/genetics/pathology
EDAT- 2019/09/24 06:00
MHDA- 2020/02/15 06:00
CRDT- 2019/09/24 06:00
PHST- 2019/09/24 06:00 [entrez]
PHST- 2019/09/24 06:00 [pubmed]
PHST- 2020/02/15 06:00 [medline]
AID - 77 [pii]
PST - ppublish
SO  - J Genet. 2019 Sep;98:77.