Patient No | |||||||||||||||||||||||||
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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*** | − | − | − | − | − | − | − | − | − | − | + | − | − | − | − | − | − | + | − | − | − | ++ | − | − | − |