Holoprosencephaly in a newborn girl with 46,XX,i(18q).
We report on a newborn girl with holoprosencephaly, microcephaly, absent right radius, and other anomalies with an 46,XX,i(18q) chromosome constitution. This is the first report of an i(18q) in syndromal alobar holoprosencephaly.
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Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141.
Eunpu
D L
DL
Austria
J R
JR
Mamunes
P
P
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000648:ultrastructure*; D003241:Consanguinity; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn