Table 1 Reported case of familial hypomelanosis of Ito (HMI)
From: Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report
Citation | Year | Authors | HMI affected Members | Systemic features | Karyotype |
|---|---|---|---|---|---|
[16] | 1963 | Masumizu | Parents | None | Not performed |
[17] | 1969 | Piñol et al. | Mother and her daughter | Myopia, chorioretinal and retinal pigment epithelium atrophy in the right eye | Not performed |
[7] | 1970 | Sacrez et al. | Mother and three daughters | Congenital encephalopathy | Normal (peripheral lymphocytes) |
| Â | (performed only in one daughter) | ||||
[8] | 1971 | Grosshans et al. | Mother and three daughters | Marked psychomotor retardation, strabismus, hypodontia and skeletal dysplasia | Not performed |
[18] | 1972 | Rubin | Two brothers, sister, father and paternal uncle | None | Not performed |
[19] | 1973 | Jelinek et al. | Distant and deceased relatives, paternal great aunt | Epileptic seizures and strabismus | Not performed |
[9] | 1974 | Cram and Fukuyama | Child, his mother and his maternal grandfather | Epileptic seizures | Not performed |
[20] | 1975 | Hellgren | Mother, sister and brother | Macrocheilia, iris pigmented spots and hair anomalies | Not performed |
[21] | 1975 | Griffiths and Payne | Mother and father (first cousins) | Ocular hypertelorism, nails and fingers anomalies | Not performed |
[22] | 1977 | Schwartz et al. | Nephew and maternal grandmother | Epileptic seizures, retardation, macrocephaly, delayed closure anterior fontanelle, leg length discrepancy, scoliosis and iridial heterochromia | Not performed |
[10] | 1987 | Patrizi et al. | Mother and two sibs | Neurological symptoms | Not performed |
[23] | 1990 | Amon et al. | Mother and daughter | Ocular symptomatology | Deletion of chromosome 15 |
| Â | (peripheral lymphocytes and fibroblasts) | ||||
[24] | 1991 | Montagna et al. | Mother and two sibs | Mental and cerebellar signs, organic psychosis | Normal (peripheral lymphocytes) |
[3] | 1992 | Vormittag et al. | Mother and daughter | Epileptic seizures, ophthalmologic abnormalities, scoliosis and lordosis | Normal (peripheral lymphocytes) |
| Â | Tetraploidy in #2 (23%), #5 (11%), #11 and #14 (6%), #18 and #21 (2%) (fibroblasts) | ||||
[11] | 1993 | Zappella | A pair of monozygotic and a pair of dizygotic twins | Autism, delayed psychomotor development and microcephaly | Normal (peripheral lymphocytes) |
| Â | 2014 | Ponti et al. | Father and daughter | None | Normal (peripheral lymphocytes) |
| Â | Paternal trisomy 2 (fibroblasts) |