title: A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys.
abstract: We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilateral multicystic kidneys and the Dandy-Walker malformation. Characteristic craniofacial features include a turricephalic prominent forehead, hypertelorism, low-set ears, a flat nasal bridge, mid-face hypoplasia, bilateral cleft lip and palate, and a thick nuchal fold. Array-comparative genomic hybridization (CGH) analysis demonstrated a 12Mb deletion of 6p24.1-->pter.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Chin-Yuan
authors.initials: CY
authors.lastname: Tzen
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.forename: Chin-Yuan
authors.initials: CY
authors.lastname: Hsu
authors.forename: Chen-Chi
authors.initials: CC
authors.lastname: Lee
authors.forename: Meng-Shan
authors.initials: MS
authors.lastname: Lee
authors.forename: Chen-Wen
authors.initials: CW
authors.lastname: Pan
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D005865:Gestational Age; D006801:Humans; D021782:Multicystic Dysplastic Kidney / Q000235:genetics*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012886:Skull / Q000002:abnormalities