Table 1.

Comparison of clinical features of the patient in this study and patients in a previous study on 4p interstitial deletion

Phenotype	This study	Total n/N* (%) for Alesi et al. [2]
Deleted region	4p15.1–15.31	4p14–16.3
Mental retardation	+	15/16 (94)
Hypotonia	−	13/16 (81)
Large nose	−	11/15 (73)
Epicanthal folds	−	10/15 (67)
Micrognathia/retrognathia	−	10/16 (63)
Tall thin body habitus	−	8/13 (62)
Long face	−	9/15 (60)
High palate	−	9/15 (60)
Cryptorchidism	+	4/7 (57)
Midface hypoplasia	−	7/13 (54)
Upslanting palpebral fissures	−	8/15 (53)
Ptosis	−	5/16 (31)
Hypertelorism	+	4/15 (27)
Broad short neck	−	4/15 (27)
Craniosynostosis	−	1/16 (6)
Congenital heart disease†	+	1/16 (6)

^*n/N indicates the ratio of the number of positive patients and the total number of examined patients;

^†Atrial septal defect.