Patients | Controls | ||||||||
---|---|---|---|---|---|---|---|---|---|
Observed aberrations | Patient A | Patient B | Controls total | Parents of patient A | Parents of patient B | Control 1 | Control 2 | ||
Mother | Father | Mother | Father | ||||||
Chromatid Gaps | 7 | 4 | 19 | 1 | 2 | 5 | 3 | 5 | 3 |
Chromatid Breaks | 1 | 0 | 5 | 1 | 0 | 3 | 0 | 0 | 1 |
Chromosome Gaps | 1 | 4 | 6 | 1 | 0 | 2 | 0 | 2 | 1 |
Chromosome Breaks | 4 | 3 | 4 | 1 | 1 | 1 | 1 | 0 | 0 |
Total aberrations | 13 | 11 | 34 | 4 | 3 | 11 | 4 | 7 | 5 |
No. scored metaphases | 52 | 51 | 318 | 50 | 54 | 53 | 56 | 54 | 51 |
Aberrations/ metaphase | 0.25* | 0.22* | 0.11* | 0.08 | 0.06 | 0.21 | 0.07 | 0.13 | 0.10 |
Patient A | Patient B/F3-II1a,b | Patient C/F1-II2a,b | Patient D/F2-II4a,b,c | Patient E/F2 sonb | |
---|---|---|---|---|---|
Origin | Italy | Italy | France | Algeria | Algeria |
Age at clinical evaluation | 2y | 4y | 7y | 30y | 8m |
Sex | Male | Female | Male | Male | Male |
Short stature | + (3° percentile) | + (50° percentile) | - | + | - |
Skin | |||||
Poikiloderma | + | + | + | + | + |
Cellulitis | - | + | + | - | - |
Dermatitis | + | + | - | - | - |
Eczematous lesions | - | - | + | + | + |
Sclerosis of digits | - | - | - | + | - |
Vitiligo | - | + | - | - | - |
Sparse scalp hair | + | + | + | + | + |
Sparse eyelashes | + | + | + | + | + |
Sparse eyebrows | + | + | + | + | + |
Heat intolerance | + | + | + | + | n.d. |
Eyes Cataract | - | + | - | - | - |
Pancreas | |||||
Insufficiency | - | - | + | - | n.d. |
Cancer | - | - | - | + | n.d. |
Liver | |||||
Failure | + | - | n.d. | - | - |
Vanishing bile ducts | + | + | n.d. | - | - |
Cirrhosis | + | - | n.d. | - | - |
Cholestasis | + | + | n.d. | - | - |
Hepatomegaly | - | + | n.d. | - | |
Lungs | |||||
Asthma | - | - | + | - | n.d. |
Restrictive syndrome | - | - | - | + | n.d. |
Muscle | |||||
Weakness | + | + | + | + | - |
Atrophy | - | - | + | + | - |
Adiposis | - | + | + | + | - |
Contractures | + | + | + | + | - |
Lymphedema | + | + | + | - | - |
Haematological alterations | ↓ IgG1, IgG2, IgG4, ↑ IgE ↑ GoT ↑ GPT ↑ gammaGT | ↓ IgG2, IgG4, ↑ IgG1 ↑ GoT ↑ GPT ↑ gammaGT ↑ LDH ↑ CPK | Eosinophilia | ↑ CPK | n.d. |
Others | Death at 17y for liver cirrhosis | Scoliosis Nail dysplasia Death at 15y for injury | n.d. | Scoliosis Dysphagia Death at 32y for cancer | n.d. |