Table 1.
Clinical features of this patient
| 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%) |
The data of the previously reported 32 patients with TS 14 are shown as the median (range) or frequency. For frequency, the denominators indicate the number of patients examined for the presence or absence of each feature, and the numerators represent the number of patients assessed to be positive for that feature; thus, the differences between the denominators and the numerators denote the number of patients evaluated to be negative for that feature
OFC occipitofrontal circumference
*Assessed by the gestational age-matched placental weights [23]
†Birth OFC-SDS ≥ 1.5 above birth length-SDS and/or birth weight-SDS
‡Postnatal relative macrocephaly is found in 38% of patients