PMID- 21316495
OWN - NLM
STAT- MEDLINE
DCOM- 20110928
LR  - 20220331
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 54
IP  - 3
DP  - 2011 May-Jun
TI  - Characterization of sSMC by FISH and molecular techniques.
PG  - 247-55
LID - 10.1016/j.ejmg.2011.01.011 [doi]
AB  - Small supernumerary marker chromosome (sSMC) is a structurally altered additional 
      chromosome that may not be explicitly clarified by conventional karyotyping 
      alone. About one third of sSMC carriers have abnormal phenotypes and its clinical 
      correlation is difficult, especially in prenatal studies. The present study was 
      aimed at characterizing 19 sSMC identified in 15 patients with dysmorphic 
      features with or without multiple congenital anomalies, conspicuous family 
      history, short stature and/or ambiguous genitalia. All the sSMC were primarily 
      identified by routine cytogenetics studies (performed with banding techniques) 
      from peripheral blood except in one patient, where amniotic fluid was used. All 
      sSMCs were further characterized by array-CGH (using 44 K oligonucleotide probe) 
      and/or fluorescence in situ hybridization (FISH) using multicolor banding (MCB), 
      centromere specific multicolor FISH (cenM-FISH), subcentromere-specific 
      multicolor FISH (subcenM-FISH), micro-dissection and/or reverse FISH. This report 
      demonstrates the worth of advanced molecular (cyto)genetic techniques in 
      characterizing sSMC, their utility in genotype-phenotype correlation and risk of 
      clinical presentation.
CI  - Copyright (c) 2011 Elsevier Masson SAS. All rights reserved.
FAU - Sheth, Frenny
AU  - Sheth F
AD  - Institute of Human Genetics, Foundation for Research In Genetics and 
      Endocrinology, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad 380 015, 
      India. fshethad1@googlemail.com
FAU - Andrieux, Joris
AU  - Andrieux J
FAU - Ewers, Elisabeth
AU  - Ewers E
FAU - Kosyakova, Nadezda
AU  - Kosyakova N
FAU - Weise, Anja
AU  - Weise A
FAU - Sheth, Harsh
AU  - Sheth H
FAU - Romana, Serge-Pierrick
AU  - Romana SP
FAU - LeLorc'h, Marc
AU  - LeLorc'h M
FAU - Delobel, Bruno
AU  - Delobel B
FAU - Theisen, Olivier
AU  - Theisen O
FAU - Liehr, Thomas
AU  - Liehr T
FAU - Nampoothiri, Sheela
AU  - Nampoothiri S
FAU - Sheth, Jayesh
AU  - Sheth J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110303
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
SB  - IM
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosome Disorders/diagnosis/*genetics
MH  - Comparative Genomic Hybridization/*methods
MH  - Family Health
MH  - Female
MH  - Genetic Association Studies/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Male
MH  - Pedigree
MH  - Reproducibility of Results
MH  - Sensitivity and Specificity
EDAT- 2011/02/15 06:00
MHDA- 2011/09/29 06:00
CRDT- 2011/02/15 06:00
PHST- 2010/06/11 00:00 [received]
PHST- 2011/01/21 00:00 [accepted]
PHST- 2011/02/15 06:00 [entrez]
PHST- 2011/02/15 06:00 [pubmed]
PHST- 2011/09/29 06:00 [medline]
AID - S1769-7212(11)00018-8 [pii]
AID - 10.1016/j.ejmg.2011.01.011 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2011 May-Jun;54(3):247-55. doi: 10.1016/j.ejmg.2011.01.011. Epub 
      2011 Mar 3.