A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter -> 4q11;p13),-Y De novo karyotype
dc.contributor.author | Tatar, Abdulgani | |
dc.contributor.author | Öztaş, Sıtkı | |
dc.contributor.author | Örs, Rahmi | |
dc.contributor.buuauthor | Yakut, Tahsin | |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı. | tr_TR |
dc.contributor.scopusid | 6602802424 | tr_TR |
dc.date.accessioned | 2022-03-08T11:02:02Z | |
dc.date.available | 2022-03-08T11:02:02Z | |
dc.date.issued | 2005 | |
dc.description.abstract | A dysmorphic newborn with 45,x,der(1)inv,(1)(p13;qter)t(y;1)(pter -> q11;p13),-Y de novo karyotype: Y/autosome translocations are very rare chromosomal rearrangements. In most cases, the long arm of the Y chromosome is translocated onto an autosome and most patients are referred because of male infertility. Y/1 translocations are very rare, and have been reported in seven patients sofar. Pericentric inversions may be seen In all chromosomes and are not associated with phenotypic abnormalities. Here we report a 6-day old male baby with prenatal growth retardation, frontal bossing, hypertelorism. micrognathia, cleft soft palate, absent uvula, hypospadias, simian line in both hands and hammer toes. Cytogenetic analysis was performed with GTG-banding, C-banding and FISH analysis containing X centromeric probe, Yq12-qter locus specific probe and whole chromosome Y probe. An unbalanced Y/1 translocation was diagnosed: 45,X,der(1)inv(1)(p13:qter)t(y;1)(pter -> q11:p13),-Y. | en_US |
dc.identifier.citation | Tatar, A. vd. (2005). "A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter -> 4q11;p13),-Y De novo karyotype". Genetic Counseling, 16(2), 173-177. | en_US |
dc.identifier.endpage | 177 | tr_TR |
dc.identifier.issn | 1015-8146 | |
dc.identifier.issue | 2 | tr_TR |
dc.identifier.pubmed | 16080298 | tr_TR |
dc.identifier.scopus | 2-s2.0-22444438011 | tr_TR |
dc.identifier.startpage | 173 | tr_TR |
dc.identifier.uri | http://hdl.handle.net/11452/24910 | |
dc.identifier.volume | 16 | tr_TR |
dc.identifier.wos | 000230547700009 | tr_TR |
dc.indexed.pubmed | Pubmed | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.wos | SCIE | en_US |
dc.language.iso | en | en_US |
dc.publisher | Medecine et Hygiene | en_US |
dc.relation.collaboration | Yurt içi | tr_TR |
dc.relation.journal | Genetic Counseling | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Biotechnology & applied microbiology | en_US |
dc.subject | Genetics & heredity | en_US |
dc.subject | Medical ethics | en_US |
dc.subject | Research & experimental medicine | en_US |
dc.subject | Unbalanced Y/1 translocation | en_US |
dc.subject | Y/autosome translocation | en_US |
dc.subject | Pericentric inv(1) | en_US |
dc.subject | Familial pericentric-inversion | en_US |
dc.subject | Y-autosome translocation | en_US |
dc.subject | Reciprocal translocation | en_US |
dc.subject | Chromosome-1 | en_US |
dc.subject | Infertility | en_US |
dc.subject | Simiae | en_US |
dc.subject.emtree | Article | en_US |
dc.subject.emtree | Autosome | en_US |
dc.subject.emtree | C banding | en_US |
dc.subject.emtree | Case report | en_US |
dc.subject.emtree | Centromere | en_US |
dc.subject.emtree | Chromosome 1 | en_US |
dc.subject.emtree | Chromosome analysis | en_US |
dc.subject.emtree | Chromosome rearrangement | en_US |
dc.subject.emtree | Chromosome translocation | en_US |
dc.subject.emtree | Cleft palate | en_US |
dc.subject.emtree | Congenital malformation | en_US |
dc.subject.emtree | Frontal bossing | en_US |
dc.subject.emtree | Gene locus | en_US |
dc.subject.emtree | Gene probe | en_US |
dc.subject.emtree | Growth retardation | en_US |
dc.subject.emtree | Hammer toe | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Hypertelorism | en_US |
dc.subject.emtree | Hypospadias | en_US |
dc.subject.emtree | Karyotype | en_US |
dc.subject.emtree | Male | en_US |
dc.subject.emtree | Male infertility | en_US |
dc.subject.emtree | Micrognathia | en_US |
dc.subject.emtree | Newborn | en_US |
dc.subject.emtree | Palatopharyngeal incompetence | en_US |
dc.subject.emtree | Pericentric chromosome inversion | en_US |
dc.subject.emtree | Phenotype | en_US |
dc.subject.emtree | Physical examination | en_US |
dc.subject.emtree | Y chromosome | en_US |
dc.subject.mesh | Abnormalities, multiple | en_US |
dc.subject.mesh | Chromosome banding | en_US |
dc.subject.mesh | Chromosome deletion | en_US |
dc.subject.mesh | Chromosomes, human, pair 1 | en_US |
dc.subject.mesh | Chromosomes, human, y | en_US |
dc.subject.mesh | Craniofacial abnormalities | en_US |
dc.subject.mesh | DNA mutational analysis | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | In situ hybridization, fluorescence | en_US |
dc.subject.mesh | Infant, newborn | en_US |
dc.subject.mesh | Inversion, chromosome | en_US |
dc.subject.mesh | Karyotyping | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Seminal plasma proteins | en_US |
dc.subject.mesh | Sex chromosome aberrations | en_US |
dc.subject.mesh | Translocation, genetic | en_US |
dc.subject.scopus | Male Sterility Due to Y-Chromosome Deletion; Azoospermia; Y Chromosome | en_US |
dc.subject.wos | Biotechnology & applied microbiology | en_US |
dc.subject.wos | Medicine, research & experimental | en_US |
dc.subject.wos | Genetics & heredity | en_US |
dc.subject.wos | Medical ethics | en_US |
dc.title | A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter -> 4q11;p13),-Y De novo karyotype | en_US |
dc.type | Article | |
dc.wos.quartile | Q4 | en_US |