PMID- 25944464
OWN - NLM
STAT- MEDLINE
DCOM- 20160419
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 167A
IP  - 8
DP  - 2015 Aug
TI  - Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic 
      unbalanced translocation.
PG  - 1859-64
LID - 10.1002/ajmg.a.36980 [doi]
AB  - Partial trisomy of 11q is characterized by pre/postnatal growth retardation, 
      microcephaly, dysmorphic craniofacial features, cognitive disability, abnormal 
      muscle tone, inguinal hernia, and possible congenital heart defects. Here, we 
      describe a 17-year-old male with a 17.77 Mb-sized [arr 11q23.3-q25 (116,667,559 
      -134,434,130) x3] partial trisomy resulting from the unbalanced translocation 
      between chromosomes 11 and 22. The terminal translocation was detected using 
      oligonucleotide array comparative genomic hybridization (CGH) with fluorescence 
      in situ hybridization (FISH) confirmation. The partial trisomy was inherited from 
      his mother who had the low-level (22.7%) mosaic unbalanced translocation and a 
      normal phenotype. The patient showed most of the common features of partial 
      trisomy 11q syndrome, with additional findings, including mesenteric 
      fibromatosis.
CI  - (c) 2015 Wiley Periodicals, Inc.
FAU - Choi, Jungyoon
AU  - Choi J
AD  - Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji 
      University, Seoul, Korea.
FAU - Lee, Hojung
AU  - Lee H
AD  - Department of Pathology, Eulji General Hospital, College of Medicine, Eulji 
      University, Seoul, Korea.
FAU - Lee, Cha Gon
AU  - Lee CG
AD  - Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji 
      University, Seoul, Korea.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150505
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adolescent
MH  - *Chromosomes, Human, Pair 11
MH  - Comparative Genomic Hybridization
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Mosaicism
MH  - *Translocation, Genetic
MH  - *Trisomy
OTO - NOTNLM
OT  - chromosome 11 partial trisomy 11q
OT  - chromosomes human pair 11
OT  - mesenteric fibromatosis
OT  - partial trisomy
OT  - translocation
EDAT- 2015/05/07 06:00
MHDA- 2016/04/20 06:00
CRDT- 2015/05/07 06:00
PHST- 2014/09/10 00:00 [received]
PHST- 2014/12/29 00:00 [accepted]
PHST- 2015/05/07 06:00 [entrez]
PHST- 2015/05/07 06:00 [pubmed]
PHST- 2016/04/20 06:00 [medline]
AID - 10.1002/ajmg.a.36980 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2015 Aug;167A(8):1859-64. doi: 10.1002/ajmg.a.36980. Epub 2015 
      May 5.