Alp, M. Y.Çebi, A.H.Seyhan, S.Cansu, A.Aydın, Hacı Veliİkbal, M.2022-05-112022-05-1120161015-8146https://hdl.handle.net/20.500.11776/923222.5 MB deletion ofliqil. l-qi4 associated with HPE, DWM, and HSCR: A case report and redefining the smallest deleted regions: Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, hrain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 3q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies. Here we described a male patient with de novo interstitial deletion of I3q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HI'H, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q3l.1-32.1.eninfo:eu-repo/semantics/closedAccess13q deletion syndromeDandy-Walker malformationHirschsprung's diseaseHoloprosencephalygenomic DNAApgar scoreArticlecase reportchromosome 13qchromosome analysischromosome deletion 13clinical articleclinodactylycryptorchismcyanosisDandy Walker syndromeDNA isolationear dysplasiaepilepsyface dysmorphiagenetic associationgenotype phenotype correlationgrowth retardationHirschsprung diseasehistologyholoprosencephalyhumanhuman tissuehypernatremiainfantintestine obstructionlimb defectlow set earmaleMeckel diverticulummegacolonmental deficiencymicrocephalymicrognathiamicropenisphysical examinationseizureshort staturechromosome 13chromosome deletionchromosome disorderDandy Walker syndromegeneticsHirschsprung diseaseholoprosencephalymultiple malformation syndromeAbnormalities, MultipleChromosome DeletionChromosome DisordersChromosomes, Human, Pair 13Dandy-Walker SyndromeHirschsprung DiseaseHoloprosencephalyHumansInfantMaleArticle27143492-s2.0-8497345507627192891N/A