PMID- 24035902
OWN - NLM
STAT- MEDLINE
DCOM- 20131223
LR  - 20131015
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 531
IP  - 2
DP  - 2013 Dec 1
TI  - Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and 
      review of the literature.
PG  - 502-5
LID - S0378-1119(13)01180-3 [pii]
LID - 10.1016/j.gene.2013.09.006 [doi]
AB  - Genotype-phenotype analysis of at least 25 individuals with interstitial 16p13.3 
      duplications defines a recognizable syndrome associated with duplication of a 
      critical Rubinstein-Taybi region encompassing only the CREBBP gene. Nevertheless, 
      variable or incompletely penetrant phenotype has been reported previously. We 
      here report a case of a 5-year old boy with a recognizable phenotype of this 
      syndrome, including intellectual disability, mild arthrogryposis, small and 
      proximally implanted thumbs and characteristic facial features. In addition, 
      growth delay, microcephaly and distinguishable structural brain MRI abnormalities 
      were observed. A de novo 1.5 Mb interstitial duplication of 16p13.3 was detected 
      by SNP-array and fluorescence in situ hybridization (FISH). Short tandem repeat 
      polymorphism (STRP) analysis with marker D16S475 indicated that the duplication 
      was formed before maternal meiosis II. Our findings highlight the variable 
      clinical features and further expand the phenotypic spectrum correlated with this 
      lately proposed syndrome.
CI  - (c) 2013 Elsevier B.V. All rights reserved.
FAU - Li, Zhuo
AU  - Li Z
AD  - State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya 
      Road, Changsha, Hunan 410078, China.
FAU - Liu, Jing
AU  - Liu J
FAU - Li, Haoxian
AU  - Li H
FAU - Peng, Ying
AU  - Peng Y
FAU - Lv, Weigang
AU  - Lv W
FAU - Long, Zhigao
AU  - Long Z
FAU - Liang, Desheng
AU  - Liang D
FAU - Wu, Lingqian
AU  - Wu L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20130912
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child, Preschool
MH  - *Chromosome Duplication
MH  - Chromosomes, Human, Pair 16/*genetics
MH  - Growth Disorders/complications/genetics
MH  - Humans
MH  - Intellectual Disability/genetics
MH  - Male
MH  - Microcephaly/*genetics
MH  - Phenotype
MH  - Rubinstein-Taybi Syndrome/genetics
OTO - NOTNLM
OT  - ASD
OT  - BAC
OT  - CNV
OT  - CREBBP
OT  - DD
OT  - DQ
OT  - F
OT  - FISH
OT  - Growth delay
OT  - ID
OT  - IUGR
OT  - Intellectual disability
OT  - Interstitial 16p13.3 duplications
OT  - M
OT  - MRI
OT  - SD
OT  - SNP
OT  - SNP array
OT  - STRP
OT  - atrial septal defect
OT  - bacterial artificial chromosome
OT  - copy number variation
OT  - cyclic AMP response element binding protein
OT  - dUTP
OT  - deoxyuridine triphosphate
OT  - development quotient
OT  - developmental delay
OT  - female
OT  - fluorescence in situ hybridization
OT  - intellectual disability
OT  - intrauterine growth retardation
OT  - magnetic resonance imaging
OT  - male
OT  - short tandem repeat polymorphism
OT  - single nucleotide polymorphism
OT  - standard deviation
EDAT- 2013/09/17 06:00
MHDA- 2013/12/24 06:00
CRDT- 2013/09/17 06:00
PHST- 2013/07/23 00:00 [received]
PHST- 2013/08/26 00:00 [revised]
PHST- 2013/09/03 00:00 [accepted]
PHST- 2013/09/17 06:00 [entrez]
PHST- 2013/09/17 06:00 [pubmed]
PHST- 2013/12/24 06:00 [medline]
AID - S0378-1119(13)01180-3 [pii]
AID - 10.1016/j.gene.2013.09.006 [doi]
PST - ppublish
SO  - Gene. 2013 Dec 1;531(2):502-5. doi: 10.1016/j.gene.2013.09.006. Epub 2013 Sep 12.