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.
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.
Chen
Chih-Ping
CP
Tzen
Chin-Yuan
CY
Chern
Schu-Rern
SR
Tsai
Fuu-Jen
FJ
Hsu
Chin-Yuan
CY
Lee
Chen-Chi
CC
Lee
Meng-Shan
MS
Pan
Chen-Wen
CW
Wang
Wayseen
W
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