Prenatal detection of cyclopia associated with interstitial deletion of 2p.
We report on a case of synophthalmic cyclopia and alobar holoprosencephaly associated with an interstitial deletion of the short arm of chromosome 2: del(2)(p21p23). This is the second case with this phenotype in association with deletion in this region, and comparison with the infrequent other cases of 2p deletions suggests a causal relationship between band 2p21 and cyclopia.
Grundy
H O
HO
Genetics Institute, Pasadena, California 91105.
Niemeyer
P
P
Rupani
M K
MK
Ward
V F
VF
Wassman
E R
ER
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002889:Chromosomes, Human, Pair 2; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005313:Fetal Death; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014314:Trisomy