Interstitial deletion of chromosome 2 (p23p25).
We report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum alpha-fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO-2p25) and normal levels of red cell malate dehydrogenase (SRO-2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000135:Acid Phosphatase / Q000097:blood / Q000235:genetics; D002869:Chromosome Aberrations / Q000201:enzymology / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure*; D004912:Erythrocytes / Q000201:enzymology; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008291:Malate Dehydrogenase / Q000097:blood / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*
D005819:Genetic Markers; D008291:Malate Dehydrogenase; D000135:Acid Phosphatase