About: der(4)t(Y;4): Three-Generation Transmission and Sperm Meiotic Segregation Analysis

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About: der(4)t(Y;4): Three-Generation Transmission and Sperm Meiotic Segregation Analysis Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. (en)
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 (en)
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 (en)
skos:notation	RIV/00027162:_____/11:#0000764!RIV12-MZ0-00027162
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NS9842)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Rubeš, Jiří Oráčová, Eva Rybář, Roman Vozdová, Miluše Přinosilová, Petra
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Výzkumný ústav veterinárního lékařství, v.v.i.
http://linked.open...dnocenehoVysledku	193458
http://linked.open...ai/riv/idVysledku	RIV/00027162:_____/11:#0000764
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	sex chromosome translocation; sperm meiotic segregation; interchromosomal effect; chromatin integrity; FISH (en)
http://linked.open.../riv/klicoveSlovo	FISH chromatin integrity interchromosomal effect sex chromosome translocation sperm meiotic segregation
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[3B4D3C8ADD89]
http://linked.open...i/riv/nazevZdroje	American Journal of Medical Genetics A
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Study of meiotic disturbances in men - carriers of congenital balanced translocations and their effect on the outcome of assisted reproduction
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	155A
http://linked.open...iv/tvurceVysledku	Rubeš, Jiří Hořínová, V. Oráčová, Eva Přinosilová, Petra Rybář, Roman Skalíková, R. Vozdová, Miluše Wernerová, V.
http://linked.open...ain/vavai/riv/wos	000290716700032
issn	1552-4825
number of pages	5 (xsd:int)

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