PMID- 24357605
OWN - NLM
STAT- MEDLINE
DCOM- 20141103
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 164A
IP  - 3
DP  - 2014 Mar
TI  - Patient with three euchromatic supernumerary marker chromosomes derived from 
      chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.
PG  - 736-40
LID - 10.1002/ajmg.a.36319 [doi]
AB  - The genetic relevance of small supernumerary marker chromosomes (sSMCs) depends 
      on their content of euchromatin. In case of mosaicism, the phenotype of the 
      carrier furthermore is influenced by the distribution of the marker in the body. 
      In the majority of reported cases no correlation of the degree of mosaicism in 
      the tissue(s) analyzed and the phenotype could be detected. In particular, 
      non-acrocentric derived sSMCs show a strong tendency to appear in mosaic state 
      irrespective of the clinical picture. We present a patient with cognitive 
      disability and mild craniofacial dysmorphisms with mosaicism of three different 
      autosomal marker chromosomes. The extra chromosomes were analyzed by a 
      combination of SNP array and a variety of fluorescence in situ hybridization 
      (FISH) probes. All three markers were identified as ring chromosomes containing 
      different amounts of euchromatic material derived from chromosome 1 (1p12 --> q21), 
      12 (12p13.1 --> q13.11) and 18 (18p11.21 --> q11.2). The size and the frequency of 
      the sSMCs were strikingly different, besides, we observed an unequal combination 
      of the three derivates.
CI  - (c) 2013 Wiley Periodicals, Inc.
FAU - Schwanitz, Gesa
AU  - Schwanitz G
AD  - Institute of Human Genetics, University of Bonn, Bonn, Germany.
FAU - Hagh, Javad Karim Zad
AU  - Hagh JK
FAU - Rad, Isa Abdi
AU  - Rad IA
FAU - Omrani, Mir Davood
AU  - Omrani MD
FAU - Gamerdinger, Ulrike
AU  - Gamerdinger U
FAU - Schubert, Regine
AU  - Schubert R
FAU - Elbracht, Miriam
AU  - Elbracht M
FAU - Eggermann, Thomas
AU  - Eggermann T
FAU - Eggermann, Katja
AU  - Eggermann K
FAU - Spengler, Sabrina
AU  - Spengler S
FAU - Schuler, Herdit
AU  - Schuler H
FAU - Gogiel, Magdalena
AU  - Gogiel M
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20131219
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Euchromatin)
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Disorders/*diagnosis/*genetics
MH  - *Chromosomes, Human, Pair 1
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 18
MH  - *Euchromatin
MH  - Facies
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Oligonucleotide Array Sequence Analysis
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide
OTO - NOTNLM
OT  - der(1)
OT  - der(12)
OT  - der(18)
OT  - mosaicism
OT  - small supernumerary marker chromosomes
EDAT- 2013/12/21 06:00
MHDA- 2014/11/05 06:00
CRDT- 2013/12/21 06:00
PHST- 2013/02/25 00:00 [received]
PHST- 2013/09/30 00:00 [accepted]
PHST- 2013/12/21 06:00 [entrez]
PHST- 2013/12/21 06:00 [pubmed]
PHST- 2014/11/05 06:00 [medline]
AID - 10.1002/ajmg.a.36319 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2014 Mar;164A(3):736-40. doi: 10.1002/ajmg.a.36319. Epub 2013 
      Dec 19.