|
| Scheme | Identification data | Gender | Clinical information | Proposed mutations |
|
| | Irene Pettorbi 12/01/1989 | F | Female of Pakistani origin affected by Cystic Fibrosis; she manifests moderate respiratory symptomatology, pancreatic sufficiency, and normal values of sweat chloride | c.3717+12191C>T/c.3717+12191C>T
(3849+10KbC>T/3849+10KbC>T) |
| CF | Manuela Statenti 13/01/1998 | F | Female with positive sweat test, mild breathing symptoms. She asks for molecular characterization for Cystic Fibrosis. | c.579+1G>T/c.489+1G>T
(711+1G>T/621+1G>T) |
| Sara Ulmilefa 12/04/1966 | F | Female clinically healthy with child affected by Cystic Fibrosis | c.3846G>A heterozygous
(W1282X heterozygous) |
| | Anna Ellicine 05/05/1995 | F | Female with positive sweat test; her brother is affected by Cystic Fibrosis.
She asks for molecular characterization | c.1521_1523delCTT/c.1657C>T
(F508del/R553X) |
|
|
BT | Mario Tappenti 05/09/1982 | M | Affected by Beta Thalassemia major | c.20delA/c.118C>T
(Bcd6(-A)/Bcd39C>T) |
| Antonio Aberuste 22/01/1988 | M | Affected by Beta Thalassemia major | c.118C>T/c.118C>T
(Bcd39C>T/Bcd39C>T) |
| Giovanni Pormitou 17/07/1987 | M | Affected by Beta Thalassemia intermediate | c.20delA/c.93-21G>A
(Bcd6(-A)/IVS1-110G>A) |
| Elio Smantico 01/06/1976 | M | Carrier of Beta Thalassemia | c.93-21G>A heterozygous
(IVS1-110G>A heterozygous) |
|
|
FX | Dompinti Anna 20/02/1983 | F | Female, with normal phenotype, has two children and a brother affected by Fragile X Syndrome | 23/200 repeats (Premutation) |
| Ornicapo Irene 12/03/1983 | F | Female, with normal phenotype, has a nephew and an uncle affected by Fragile X Syndrome | 29/90 repeats (Premutation) |
| Quezzamo Nicola 13/03/1958 | M | Male, with normal phenotype, has brother and nephew with Fragile X Syndrome; suspect carrier | 100 repeats (Premutation) |
| Ubbronti Mario 30/12/1970 | M | Male with suspect on Fragile X Syndrome | 30 repeats (Wild) |
|
|
APC | Anuttifo Ennio 05/02/1969 | M | No clinical indication | c.4012C>T heterozygous*
c.4597A>C heterozygous# |
| Piclilma Gianni 14/02/1957 | M | No clinical indication | c.1629_1630delT heterozygous |
| Ordectio Mario 17/03/1995 | M | No clinical indication | c.1621C>T heterozygous |
| Simpieti Aldo 11/03/1977 | M | No clinical indication | c.3149delC heterozygous*
c.7417C>T heterozygous# |
|
