De novo del(3)(q2800).
A severely malformed girl who died at 3 months of age was found to have de novo del(3)(q2800). The main features were retarded growth and development, microdolichocephaly, bilateral microphthalmia, bilateral cleft lip and palate, cardiac murmur, clenched hands and long flat feet with flexed toes. The phenotypical comparison with the other three 3q partially monosomic patients so far reported did not allow the individualization of a distinct syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype