Characteristics of each patient studied
Case No/ (sex) | Type of diabetes | Birthweight below 0.4th centile for gestation | Age at diagnosis | Significant dysmorphic features | Islet cell antibodies (ICA) at diagnosis | ‘C’ peptide or insulin at diagnosis | Duration of exogenous insulin requirement | Karyotype | Inheritance of chromosome 6 | Current status (age) |
---|---|---|---|---|---|---|---|---|---|---|
1 (M) | Permanent | Yes | 2 days | Nil | Negative | Normal | 1st cousin marriage 46XY | BPI | Diabetic (4 years) | |
2 (F) | Permanent | No | 4 days | Nil | Negative | 46XX | BPI | Diabetic (6 years) | ||
3 (F) | Transient | Yes | 3 days | Nil | Negative | Low | 3 months | 46XX | BPI | Non-diabetic (3.5 years) |
4 (F) | Transient | Yes | 10 days | Macroglossia | Negative | Undetectable | 8 months | 1st cousin marriage | BPI | Non-diabetic (3.5 years) |
5 (F) | Transient | Yes | 2 days | Nil | Negative | Undetechable | 6 months | 46XX | Paternal UPD | IIGT, relapsed aged 13 years, diabetic (ICA negative) (17 years) |
6 (M) | Transient | No | Nil | 1 month | 46XY | BPI | Non-diabetic IIGT (ICA negative) (22 years) | |||
7 (F) | Transient | Yes | 1 day | Nil | Low | Non-diabetic (3.5 years) | ||||
8 (F) | Transient | Yes | 2 weeks | Nil | < 1 month | 46XX | BPI | Diabetic, relapsed aged 20 years (32 years) | ||
9 (M) | Transient | Yes | 3 days | Nil | Negative | 3.5 months | BPI | Non-diabetic (2 years) | ||
10 (M) | Transient | No | 3 days | Dysmorphic facies, hypospadias, dextrocardia, dilated lateral ventricles | Negative | < 1 month | 46XY | BPI | Non-diabetic, IIGT (9 years) | |
11 (F) | Transient | Yes | 1 day | Anterior placed anus, macroglossia | Low | 4 months | 47XX Maternal ring(6) | Paternal UPD | Non-diabetic, high ‘C’ peptide (2 years) | |
12 (M) | Transient | Yes | 1 day | Nil | Low | 2 months | Paternal UPD | Non-diabetic (7 months) | ||
13 (F) | Transient | No | 9 days | Microcephaly | Negative | Undetechable | 2.5 months | 46XX Duplication of 6q22-23* | BPI | Non-diabetic (10 months) |
14 (M) | Unknown | Yes | 2 days | Dysmorphic facies, dilated lateral ventricles, low platelets | 46XY | Died aged 3 days |
BPI = Biparental inheritance; IIGT = intermittent impaired glucose tolerance; UPD = uniparental disomy; * 46, XX, der(2)ins(2;6)(2pter-2p22.2::6q22.?32-6q23.?1::2p22.2-2qter)pat.