Tatar, AbdulganiÖztaş, SıtkıÖrs, Rahmi2022-03-082022-03-082005Tatar, 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), 173-177.1015-8146http://hdl.handle.net/11452/24910A 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.eninfo:eu-repo/semantics/closedAccessBiotechnology & applied microbiologyGenetics & heredityMedical ethicsResearch & experimental medicineUnbalanced Y/1 translocationY/autosome translocationPericentric inv(1)Familial pericentric-inversionY-autosome translocationReciprocal translocationChromosome-1InfertilitySimiaeAbnormalities, multipleChromosome bandingChromosome deletionChromosomes, human, pair 1Chromosomes, human, yCraniofacial abnormalitiesDNA mutational analysisHumansIn situ hybridization, fluorescenceInfant, newbornInversion, chromosomeKaryotypingMaleSeminal plasma proteinsSex chromosome aberrationsTranslocation, geneticArticle0002305477000092-s2.0-2244443801117317716216080298Biotechnology & applied microbiologyMedicine, research & experimentalGenetics & heredityMedical ethicsMale Sterility Due to Y-Chromosome Deletion; Azoospermia; Y ChromosomeArticleAutosomeC bandingCase reportCentromereChromosome 1Chromosome analysisChromosome rearrangementChromosome translocationCleft palateCongenital malformationFrontal bossingGene locusGene probeGrowth retardationHammer toeHumanHypertelorismHypospadiasKaryotypeMaleMale infertilityMicrognathiaNewbornPalatopharyngeal incompetencePericentric chromosome inversionPhenotypePhysical examinationY chromosome