Publication:
A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter -> 4q11;p13),-Y De novo karyotype

dc.contributor.authorTatar, Abdulgani
dc.contributor.authorÖztaş, Sıtkı
dc.contributor.authorÖrs, Rahmi
dc.contributor.buuauthorYakut, Tahsin
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıbbi Genetik Ana Bilim Dalı
dc.contributor.scopusid6602802424
dc.date.accessioned2022-03-08T11:02:02Z
dc.date.available2022-03-08T11:02:02Z
dc.date.issued2005
dc.description.abstractA 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.
dc.identifier.citationTatar, 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.
dc.identifier.endpage177
dc.identifier.issn1015-8146
dc.identifier.issue2
dc.identifier.pubmed16080298
dc.identifier.scopus2-s2.0-22444438011
dc.identifier.startpage173
dc.identifier.urihttp://hdl.handle.net/11452/24910
dc.identifier.volume16
dc.identifier.wos000230547700009
dc.indexed.scopusScopus
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherMedecine et Hygiene
dc.relation.collaborationYurt içi
dc.relation.journalGenetic Counseling
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectBiotechnology & applied microbiology
dc.subjectGenetics & heredity
dc.subjectMedical ethics
dc.subjectResearch & experimental medicine
dc.subjectUnbalanced Y/1 translocation
dc.subjectY/autosome translocation
dc.subjectPericentric inv(1)
dc.subjectFamilial pericentric-inversion
dc.subjectY-autosome translocation
dc.subjectReciprocal translocation
dc.subjectChromosome-1
dc.subjectInfertility
dc.subjectSimiae
dc.subject.emtreeArticle
dc.subject.emtreeAutosome
dc.subject.emtreeC banding
dc.subject.emtreeCase report
dc.subject.emtreeCentromere
dc.subject.emtreeChromosome 1
dc.subject.emtreeChromosome analysis
dc.subject.emtreeChromosome rearrangement
dc.subject.emtreeChromosome translocation
dc.subject.emtreeCleft palate
dc.subject.emtreeCongenital malformation
dc.subject.emtreeFrontal bossing
dc.subject.emtreeGene locus
dc.subject.emtreeGene probe
dc.subject.emtreeGrowth retardation
dc.subject.emtreeHammer toe
dc.subject.emtreeHuman
dc.subject.emtreeHypertelorism
dc.subject.emtreeHypospadias
dc.subject.emtreeKaryotype
dc.subject.emtreeMale
dc.subject.emtreeMale infertility
dc.subject.emtreeMicrognathia
dc.subject.emtreeNewborn
dc.subject.emtreePalatopharyngeal incompetence
dc.subject.emtreePericentric chromosome inversion
dc.subject.emtreePhenotype
dc.subject.emtreePhysical examination
dc.subject.emtreeY chromosome
dc.subject.meshAbnormalities, multiple
dc.subject.meshChromosome banding
dc.subject.meshChromosome deletion
dc.subject.meshChromosomes, human, pair 1
dc.subject.meshChromosomes, human, y
dc.subject.meshCraniofacial abnormalities
dc.subject.meshDNA mutational analysis
dc.subject.meshHumans
dc.subject.meshIn situ hybridization, fluorescence
dc.subject.meshInfant, newborn
dc.subject.meshInversion, chromosome
dc.subject.meshKaryotyping
dc.subject.meshMale
dc.subject.meshSeminal plasma proteins
dc.subject.meshSex chromosome aberrations
dc.subject.meshTranslocation, genetic
dc.subject.scopusMale Sterility Due to Y-Chromosome Deletion; Azoospermia; Y Chromosome
dc.subject.wosBiotechnology & applied microbiology
dc.subject.wosMedicine, research & experimental
dc.subject.wosGenetics & heredity
dc.subject.wosMedical ethics
dc.titleA dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter -> 4q11;p13),-Y De novo karyotype
dc.typeArticle
dc.wos.quartileQ4
dc.wos.quartileQ4
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Tıbbi Genetik Ana Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS
local.indexed.atScopus

Files

License bundle

Now showing 1 - 1 of 1
Placeholder
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description: