PMID- 19128450
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20110714
LR  - 20211117
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 2
DP  - 2009 Jan 7
TI  - Characterization of a prenatally assessed de novo supernumerary minute ring 
      chromosome 20 in a phenotypically normal male.
PG  - 1
LID - 10.1186/1755-8166-2-1 [doi]
AB  - BACKGROUND: The heterogeneous group of small supernumerary marker chromosomes 
      (sSMCs) presents serious counseling problems, especially if they are present de 
      novo and diagnosed prenatally. The incidence has been estimated at 1 in 1000 
      prenatal samples. We present a case of mosaic sSMC diagnosed prenatally after 
      amniocentesis. The sSMC was characterized by various molecular cytogenetic 
      techniques and determined to be a r(20) chromosome. After genetic counseling, the 
      parents decided to continue the pregnancy, and a boy with minor phenotypic 
      variants was born after 39 weeks of pregnancy. The case is compared with four 
      other cases of prenatally detected r(20) mosaicism. RESULTS: Here we describe a 3 
      months old male child with normal pre- and postnatal development and with a de 
      novo ring supernumerary marker chromosome in amniocytes cultures. Using new 
      fluorescence in situ hybridization (FISH) techniques, three distinguishable sSMCs 
      (cryptic mosaicism), all derived from chromosome 20, were observed, including 
      ring and minute chromosomes. This heterogeneity was impossible to detect by the 
      conventional G-banding technique or conventional FISH technique that were used 
      before the application of new FISH techniques (subcentromere-specific 
      multicolor-FISH [subcenM-FISH]) and a probe, specific for the 20p12.2 band. The 
      sSMC present in 25% of the cells was present as 
      r(20)(::p12.2~12.3->q11.1::)5/r(20;20)(::p12.1->q11.1::q11.1 
      >p12.1::)2/min(20;20)(:p12.1->q11.1::q11.1->p12.1:)1. The final karyotype was 
      47,XY,+r(20)[25%]/46,XY[75%]. CONCLUSION: We emphasize the importance of 
      application of molecular cytogenetics in a prenatally diagnostic laboratory and 
      description of more cases to enable a better genetic counseling and risk 
      evaluation.
FAU - Kitsiou-Tzeli, Sofia
AU  - Kitsiou-Tzeli S
AD  - Bioiatriki S,A, Kifisias Av, 132 and Papada, GR-115 26 Athens, Greece. 
      emanolakos@bioiatriki.gr.
FAU - Manolakos, Emmanouil
AU  - Manolakos E
FAU - Lagou, Magdalini
AU  - Lagou M
FAU - Kontodiou, Maria
AU  - Kontodiou M
FAU - Kosyakova, Nadezda
AU  - Kosyakova N
FAU - Ewers, Elisabeth
AU  - Ewers E
FAU - Weise, Anja
AU  - Weise A
FAU - Garas, Antonios
AU  - Garas A
FAU - Orru, Sandro
AU  - Orru S
FAU - Liehr, Thomas
AU  - Liehr T
FAU - Metaxotou, Aikaterini
AU  - Metaxotou A
LA  - eng
PT  - Journal Article
DEP - 20090107
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
EIN - Mol Cytogenet. 2009 Feb 20;2:8. PMID: 19232114
PMC - PMC2635371
EDAT- 2009/01/09 09:00
MHDA- 2009/01/09 09:01
PMCR- 2009/01/07
CRDT- 2009/01/09 09:00
PHST- 2008/11/10 00:00 [received]
PHST- 2009/01/07 00:00 [accepted]
PHST- 2009/01/09 09:00 [entrez]
PHST- 2009/01/09 09:00 [pubmed]
PHST- 2009/01/09 09:01 [medline]
PHST- 2009/01/07 00:00 [pmc-release]
AID - 1755-8166-2-1 [pii]
AID - 10.1186/1755-8166-2-1 [doi]
PST - epublish
SO  - Mol Cytogenet. 2009 Jan 7;2:1. doi: 10.1186/1755-8166-2-1.