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Statements

Subject Item
n2:RIV%2F00027162%3A_____%2F11%3A%230000764%21RIV12-MZ0-00027162
rdf:type
skos:Concept n12:Vysledek
dcterms:description
We present a family where five members are carriers of der(4)t(Y;4)(q11.23;p16.3). The adult carriers are normal and fertile; the boy is handicapped. The attachement of the Yq heterochromatin to the 4p-subtelomeric region was confirmed by FISH. Sperm FISH showed a significant distortion of the X-and Y-bearing sperm ratio and significant lack of Y, der(4) spermatozoa. The analysis of X, Y, 7, 8, 18, and 21 sperm disomy and diploidy did not indicate any inter-chromosomal effect. The chromosome 4 disomy was significantly increased but still very low to be of considerable reproductive significance. The neurodevelomental phenotype of the boy was probably caused by a gene mutation. The coincidental occurrence of such chromosomal aberration and boy's phenotype might lead to misinterpretation of the causal relationship between these findings. It is necessary to consider the results of chromosomal analysis and clinical records of relatives for genetic counseling in such families. We present a family where five members are carriers of der(4)t(Y;4)(q11.23;p16.3). The adult carriers are normal and fertile; the boy is handicapped. The attachement of the Yq heterochromatin to the 4p-subtelomeric region was confirmed by FISH. Sperm FISH showed a significant distortion of the X-and Y-bearing sperm ratio and significant lack of Y, der(4) spermatozoa. The analysis of X, Y, 7, 8, 18, and 21 sperm disomy and diploidy did not indicate any inter-chromosomal effect. The chromosome 4 disomy was significantly increased but still very low to be of considerable reproductive significance. The neurodevelomental phenotype of the boy was probably caused by a gene mutation. The coincidental occurrence of such chromosomal aberration and boy's phenotype might lead to misinterpretation of the causal relationship between these findings. It is necessary to consider the results of chromosomal analysis and clinical records of relatives for genetic counseling in such families.
dcterms:title
der(4)t(Y;4): Three-Generation Transmission and Sperm Meiotic Segregation Analysis der(4)t(Y;4): Three-Generation Transmission and Sperm Meiotic Segregation Analysis
skos:prefLabel
der(4)t(Y;4): Three-Generation Transmission and Sperm Meiotic Segregation Analysis der(4)t(Y;4): Three-Generation Transmission and Sperm Meiotic Segregation Analysis
skos:notation
RIV/00027162:_____/11:#0000764!RIV12-MZ0-00027162
n12:predkladatel
n13:ico%3A00027162
n3:aktivita
n16:P
n3:aktivity
P(NS9842)
n3:cisloPeriodika
5
n3:dodaniDat
n9:2012
n3:domaciTvurceVysledku
n6:9185682 n6:3647706 n6:7029217 n6:8767246 n6:8164703
n3:druhVysledku
n11:J
n3:duvernostUdaju
n10:S
n3:entitaPredkladatele
n4:predkladatel
n3:idSjednocenehoVysledku
193458
n3:idVysledku
RIV/00027162:_____/11:#0000764
n3:jazykVysledku
n18:eng
n3:klicovaSlova
sex chromosome translocation; sperm meiotic segregation; interchromosomal effect; chromatin integrity; FISH
n3:klicoveSlovo
n7:sperm%20meiotic%20segregation n7:interchromosomal%20effect n7:sex%20chromosome%20translocation n7:chromatin%20integrity n7:FISH
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[3B4D3C8ADD89]
n3:nazevZdroje
American Journal of Medical Genetics A
n3:obor
n17:EB
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
8
n3:projekt
n15:NS9842
n3:rokUplatneniVysledku
n9:2011
n3:svazekPeriodika
155A
n3:tvurceVysledku
Přinosilová, Petra Rubeš, Jiří Skalíková, R. Rybář, Roman Hořínová, V. Wernerová, V. Vozdová, Miluše Oráčová, Eva
n3:wos
000290716700032
s:issn
1552-4825
s:numberOfPages
5