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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F14%3A10293158%21RIV15-MSM-11130___
rdf:type
skos:Concept n18:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1017/thg.2014.29
dcterms:description
Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long deletion. The deletion affects the region of a common inversion present in about 20% of Europeans. The inversion is associated with the H2 haplotype carrying additional low-copy repeats susceptible to non-allelic homologous recombination, and this haplotype is prone to deletion. No instances of 17q21.31 deletions inherited from an affected parent have been reported, and the deletions always affected a parental chromosome with the H2 haplotype. The syndrome is characterized clinically by intellectual disability, hypotonia, friendly behavior and specific facial dysmorphism with long face, large tubular or pear-shaped nose and bulbous nasal tip. We present monozygotic twin sisters showing the typical clinical picture of the syndrome. The phenotype of the sisters was very similar, with a slightly more severe presentation in Twin B. The 17q21.31 microdeletion was confirmed in both patients but in neither of their parents. Potential copy number differences between the genomes of the twins were subsequently searched using high-resolution single nucleotide polymorphism (SNP) and comparative genome hybridisation (CGH) arrays. However, these analyses identified no additional aberrations or genomic differences that could potentially be responsible for the subtle phenotypic differences. These could possibly be related to the more severe perinatal history of Twin B, or to the variable expressivity of the disorder. In accord with the expectations, one of the parents (the mother) was shown to carry the H2 haplotype, and the maternal allele of chromosome 17q21.31 was missing in the twins. Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long deletion. The deletion affects the region of a common inversion present in about 20% of Europeans. The inversion is associated with the H2 haplotype carrying additional low-copy repeats susceptible to non-allelic homologous recombination, and this haplotype is prone to deletion. No instances of 17q21.31 deletions inherited from an affected parent have been reported, and the deletions always affected a parental chromosome with the H2 haplotype. The syndrome is characterized clinically by intellectual disability, hypotonia, friendly behavior and specific facial dysmorphism with long face, large tubular or pear-shaped nose and bulbous nasal tip. We present monozygotic twin sisters showing the typical clinical picture of the syndrome. The phenotype of the sisters was very similar, with a slightly more severe presentation in Twin B. The 17q21.31 microdeletion was confirmed in both patients but in neither of their parents. Potential copy number differences between the genomes of the twins were subsequently searched using high-resolution single nucleotide polymorphism (SNP) and comparative genome hybridisation (CGH) arrays. However, these analyses identified no additional aberrations or genomic differences that could potentially be responsible for the subtle phenotypic differences. These could possibly be related to the more severe perinatal history of Twin B, or to the variable expressivity of the disorder. In accord with the expectations, one of the parents (the mother) was shown to carry the H2 haplotype, and the maternal allele of chromosome 17q21.31 was missing in the twins.
dcterms:title
Monozygotic Twins with 17q21.31 Microdeletion Syndrome Monozygotic Twins with 17q21.31 Microdeletion Syndrome
skos:prefLabel
Monozygotic Twins with 17q21.31 Microdeletion Syndrome Monozygotic Twins with 17q21.31 Microdeletion Syndrome
skos:notation
RIV/00216208:11130/14:10293158!RIV15-MSM-11130___
n3:aktivita
n19:I
n3:aktivity
I
n3:cisloPeriodika
5
n3:dodaniDat
n10:2015
n3:domaciTvurceVysledku
n4:5142830 n4:9373640 n4:2546566 n4:1090313 n4:1050397 n4:3091570 n4:1102036
n3:druhVysledku
n15:J
n3:duvernostUdaju
n11:S
n3:entitaPredkladatele
n17:predkladatel
n3:idSjednocenehoVysledku
30483
n3:idVysledku
RIV/00216208:11130/14:10293158
n3:jazykVysledku
n16:eng
n3:klicovaSlova
epigenetics; CNV; monozygotic twins; 17q21.31 microdeletion syndrome
n3:klicoveSlovo
n6:monozygotic%20twins n6:CNV n6:epigenetics n6:17q21.31%20microdeletion%20syndrome
n3:kodStatuVydavatele
AU - Australské společenství
n3:kontrolniKodProRIV
[BE739BC150AA]
n3:nazevZdroje
Twin Research and Human Genetics
n3:obor
n9:EB
n3:pocetDomacichTvurcuVysledku
7
n3:pocetTvurcuVysledku
9
n3:rokUplatneniVysledku
n10:2014
n3:svazekPeriodika
17
n3:tvurceVysledku
Mannik, Katrin Koudová, Monika Sedláček, Zdeněk Hančárová, Miroslava Kurg, Ants Slámová, Zuzana Alánová, Renata Drábová, Jana Vlčková, Markéta
n3:wos
000343964200008
s:issn
1832-4274
s:numberOfPages
6
n14:doi
10.1017/thg.2014.29
n13:organizacniJednotka
11130