Identification of a 1q25.2-31.3 deletion in the proband. a: Facial image of the patient at the age of 11. She showed prominent forehead, upslanting palpebral fissures, short philtrum, everted upper lip, hypertelorism, broad and depressed nasal bridge, arched eyebrows. b: Two homologous chromosomes 1 of the patient. c: SNP-array analysis revealed a 1q deletion spanning from 174,592,050-195,122,910 with a length of 20.5 Mb. d: Competitive fluorescent multiplex STRP assay demonstrated the deletion was of paternal origin. Three high informative STR sites D1S238 (chr1: 186412815–186413111), D1S218 (chr1: 172769757–172770032) and D1S413 (chr1:196887255–196887453) and G6PDH were analyzed, results of D1S238 indicated the loss of the paternal allele in the female.