TABLE 3.

Reported Cases of Congenital Circumferential Skin Folds with Chromosomal Abnormalities

Reference	Clinical features	Histological features	Karyotype
23,31	Low-set ears with abnormal helices, microcephaly, esotropia, rocker-bottom feet, severe mental retardation	Nevus lipomatosus	46XXdel(11)q21q23
2 (patient 2)	Macrostomia with horizontal clefting, hypertrichosis, inguinal hernias, seizures, mental retardation	NA	46,XY, inv(7)(q31.2;q32.1)mat
26	Dysmorphism, submucous cleft palate, clefting of the mouth, genital and dental anomalies, hirsutism, seizures moderate mental retardation	Smooth-muscle hamartoma	(46,XY,inv(7)(q22q31.3)mat
32	Grade IV hypospadias, discontinuous nevus flammeus, hyperpigmented area, asymmetry of lower limbs, tapering fingers, preauricular pit, atrial septal defect type II IQ of 83	NA (ultrasound: diffuse hypertrophy of connective tissue)	Blood: normal karyotype Fibroblast culture: 69,XXY Interphase fluorescence in situ hybridization on buccal mucosa XXY/XY

NA, not available.