| This patient | TS14 patients (n = 32) (Ref. [8]) |
---|---|---|
Genetic causes | Epimutation | UPD(14)mat (n = 23) Epimutation (n = 6) Paternal deletion (n = 3) |
Sex (male to female) | Female | 18:14 |
Karyotype | 46,XX | … |
Pregnancy and delivery | ||
 Gestational age (weeks) | 34 | 39 (30–41) (n = 31) |
 Placental weight g (%)* | 195 (47) | 74 (56–120) (n = 7) |
 Medically assisted reproduction | – | 2/30 (7%) |
 Paternal age at childbirth (years) | 35 | 33 (22–48) (n = 29) |
 Maternal age at childbirth (years) | 38 | 30 (22–42) (n = 31) |
Growth | ||
 Birth length-SDS | − 2.9 | − 2.1 (− 4.0 to + 1.4) (n = 29) |
 Birth weight-SDS | − 3.8 | − 2.7 (− 4.6 to + 3.8) (n = 31) |
 Birth OFC-SDS | − 0.4 | −1.2 (− 3.9 to + 1.4) (n = 27) |
 Present age (years to months) | 4:5 | 9.3 (0.7–62) (n = 32) |
 Present height-SDS | − 4.4 | − 2.3 (− 8.0 to + 0.2) (n = 32) |
 Present weight-SDS | − 7.8 | − 1.5 (− 5.7 to + 4.3) (n = 32) |
 Present OFC-SDS | − 2.0 | − 1.8 (− 4.9 to − 0.7) (n = 13) |
TS14 clinical features | ||
 Pre- and/or post-natal growth failure | + | 31/32 (97%) |
 Obesity | – | … |
 Muscular hypotonia | + | 21/31 (66%) |
 Small hands | + | 29/32 (91%) |
 Feeding difficulty | + | 19/30 (63%) |
 Early onset of puberty | … | 13/17 (76%) |
SRS Netchine-Harbison scoring system criteria | 6/6 | 4 (0–6) (n = 21) |
 Birth length and/or weight ≤ – 2 SDS | + | 26/31 (84%) |
 Height at ~ 2 years ≤ − 2 SDS | + | 24/26 (93%) |
 Relative macrocephaly at birth†| + | 14/27 (52%)‡ |
 Prominent forehead (1–3 years) | + | 19/30 (63%) |
 Body asymmetry | + | 7/30 (23%) |
 Feeding difficulties | + | 19/30 (63%) |
PWS salient features prompting genetic testing < 6 years | ||
 Hypotonia (with poor suck) | + | 21/31 (68%) |
 Global developmental delay (≥ 2 years) | + | 5/26 (19%) |
Developmental status | ||
 Age at head control (months) | 18 | 6.5 (3–10) (n = 25) |
 Age at sitting without support (months) | 24 | 10 (6–15) (n = 25) |
 Age at standing with support (years) | 4 5/12 | … |
 Intellectual disability | + | 2/12 (17%) |
 Speech delay | + | … |
 IQ/DQ | DQ = 66 (at 4 5/12 years) | 90 (53–114) (n = 12) |
 Neurological and/or emotional problems | – | 5/32 (16%) |
Other findings | ||
 Joint hypermobility | + | 10/30 (33%) |
 Scoliosis | – | 6/32 (19%) |
 Recurrence otitis media | – | … |
 Clinodactyly | – | 11/28 (39%) |