New deletion syndrome: 1q43.
A male infant showed dysmorphology of the head and face, neck, extremities, and genitalia, as well as growth and mental retardation. His G-banded karyotype was 46,XY,--1+der(1),t(1;16)(q43;q24)mat. Combined with five previously reported cases involving similar terminal deletions beginning at 1q42 or 43, we show that the homology of phenotypic characteristics permits identification of a new deletion syndrome, the first involving chromosome 1.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities; D005837:Genitalia, Male / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome