A case of de novo mosaic 18q21.3 deletion with a mild phenotype

Alp, Muhammed YunusÇebi, Alper HanSeyhan, S.Cansu, Aliİkbal, Mevlit2024-01-152024-01-152014Alp, M. Y. vd. (2014). "A case of de novo mosaic 18q21.3 deletion with a mild phenotype". Genetic Counseling, 25(1), 71-73.1015-8146https://hdl.handle.net/11452/39014eninfo:eu-repo/semantics/closedAccessChromosome 18qBiotechnology & applied microbiologyGenetics & heredityResearch & experimental medicineMedical ethicsChild, preschoolChromosome deletionChromosome disordersChromosomes, human, pair 18Developmental disabilitiesHumansMaleMosaicismPhenotypeA case of de novo mosaic 18q21.3 deletion with a mild phenotypeArticle0003371975000122-s2.0-84899083814717325124783659Biotechnology & applied microbiologyMedicine, research & experimentalGenetics & heredityMedical ethics18q deletion syndromeBody heightBody weightCase reportChildChromosome 18qChromosome aberrationChromosome analysisDenver developmental screening testDevelopmental disorderEchocardiographyEchographyEczemaFace dysmorphiaFoot malformationGestational ageHead circumferenceHumanHypospadiasLetterMaleMedical geneticsMental deficiencyMosaicismMotor retardationNuclear magnetic resonance imagingNystagmusPatient referralPes equinovarusPhenotypePregnancyPreschool childVaginal delivery