A comparison of the clinical features of the two probands with those reported in the literature  Clinical features Proband B Proband S Macrosomia Yes No Macrocephaly Yes Yes Hypertelorism, epicanthic folds
, Yes Yes downslanted palpebral fissures Redundant skin over glabella No No Macrostomia Yes Yes Macroglossia Yes Yes Midline groove lower lip or tongue Yes Yes Cleft lip or palate or high, narrow palate No No Macrognathia Yes No Congenital heart disease Yes Yes Conduction defects No No Diastasis recti/umbilical hernia No No Diaphragmatic hernia No No Renal dysplasia/nephromegaly Yes No Cryptorchidism/hypospadias Yes No Hand anomalies No Yes Rib anomalies Yes Yes Table 2.
On clinical examination, the face showed characteristic potter facies-micrognathia, hypertelorism, epicanthic folds
, snubbed nose, and low set ears.
5,8 The presence of an extra copy of the proximal part of q21, q22 appears to result in the typical physical phenotype of mental retardation, brachycephaly, hypotonia, flat facies, slanted palpebral fissures, epicanthic folds
, brush field spots on the iris, relatively large protruding tongue, small low set ears and hand anomalies (short and broad hand, clino-dactyly of the fifth finger, Simian crease).