Patient characteristics
| Patient No | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient characteristics | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23 | 24 | 25 |
| *Mi=mild; Mo=moderate; S=severe; P=profound. | |||||||||||||||||||||||||
| †Only data pertaining to first and second degree relatives. | |||||||||||||||||||||||||
| ‡Degree of consanguinity. | |||||||||||||||||||||||||
| §¶c=cousins; gf=grandfather; p=parents; s=sibs; u/a=uncle/aunt. | |||||||||||||||||||||||||
| **RM=recurrent miscarriages; SB=sib with spina bifida. | |||||||||||||||||||||||||
| ††+=present, type unknown; a=alcohol; ac=anticonvulsants. | |||||||||||||||||||||||||
| ‡‡Kink=kink in development; BP=blood pressure increase; Ha=haemangioma; Hb=hyperbilirubinaemia; HI=hernia inguinalis; SA=severe acne. | |||||||||||||||||||||||||
| §§Minor anomalies: +=one or two minor features; ++=three or four minor features; +++=multiple minor features, strongly suggestive of a syndromal genesis. | |||||||||||||||||||||||||
| ¶¶Malformations: UH=umbilical hernia; US=ureteric stenosis. | |||||||||||||||||||||||||
| ***Pigmentation defects: +=one or two café au lait spots; ++=three or more café au lait spots. | |||||||||||||||||||||||||
| General | |||||||||||||||||||||||||
| Gender | F | M | F | M | F | M | F | M | M | M | M | M | M | M | M | M | M | M | F | M | M | M | M | M | M |
| Age | 20 | 22 | 27 | 29 | 29 | 31 | 31 | 32 | 33 | 33 | 34 | 34 | 34 | 35 | 35 | 35 | 36 | 36 | 37 | 37 | 37 | 37 | 38 | 43 | 45 |
| Degree of MR* | P | Mo | S | S | S | Mo | Mo | Mo | Mo | Mo | Mo | S | S | Mo | S | S | Mi | Mo | Mi | Mo | S | P | Mo | S | S |
| Family history† | |||||||||||||||||||||||||
| Paternal age | 48 | 28 | 33 | 23 | 47 | 53 | 44 | 25 | 30 | 41 | 31 | 35 | 27 | 30 | 38 | 31 | 36 | 31 | 29 | 47 | 39 | 39 | 27 | 33 | 44 |
| Maternal age | 29 | 30 | 27 | 24 | 40 | 39 | 43 | 26 | 27 | 34 | 29 | 29 | 22 | 32 | 38 | 22 | 33 | 22 | 23 | 32 | 34 | 34 | 28 | 40 | 39 |
| Consanguinity‡ | − | − | − | − | − | − | − | − | − | +7th | − | − | − | − | − | +3rd | − | − | − | − | − | − | − | − | − |
| Mental retardation§ | − | − | − | +p | +c | − | − | +c | − | +s | +s | − | − | − | − | +s | − | − | − | − | − | − | − | − | +c |
| Psychiatric disorder¶ | − | − | − | +p | − | − | − | +u | − | − | − | − | − | − | +u/a | +u | − | − | − | − | +gf | − | − | − | − |
| Other** | RM | SB | |||||||||||||||||||||||
| Clinical history | |||||||||||||||||||||||||
| Teratogens†† | + | ac | a | ||||||||||||||||||||||
| Illnesses‡‡ | Kink | SA | Hb | BP,Hi | Ha | ||||||||||||||||||||
| Epilepsy | − | − | − | + | − | − | − | − | − | − | + | − | + | − | + | − | − | + | − | − | + | + | + | − | − |
| Phenotype | |||||||||||||||||||||||||
| Height (m) | 1.65 | 1.82 | 1.53 | 1.60 | 1.53 | 1.78 | 1.65 | 1.82 | 1.85 | 1.80 | 1.80 | 1.77 | 1.62 | 1.78 | 1.75 | 1.60 | 1.68 | 1.80 | 1.64 | 1.82 | 1.80 | 1.66 | 1.76 | 1.71 | 1.52 |
| Head circumference (centile) | 60 | >98 | <2 | 10 | 25 | <2 | 70 | 10 | 50 | >98 | 10 | 50 | 10 | >98 | 10 | <3 | 40 | 40 | 25 | >98 | >98 | 50 | 50 | 10 | 10 |
| Dysmorphic features | 98 | ||||||||||||||||||||||||
| Minor anomalies §§ | + | − | +++ | +++ | − | ++ | + | + | − | + | + | ++ | + | +++ | + | ++ | − | + | − | + | − | +++ | − | ++ | +++ |
| Malformations¶¶ | UH | − | − | − | − | − | − | − | − | − | US | − | − | − | − | − | − | − | − | − | − | − | − | − | − |
| Pigmentation defects*** | − | − | − | − | − | − | − | − | − | − | + | − | − | − | − | − | − | + | − | − | − | ++ | − | − | − |