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Table 1 Clinical features of this patient

From: Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR

  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%)
  1. 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
  2. OFC occipitofrontal circumference
  3. *Assessed by the gestational age-matched placental weights [23]
  4. †Birth OFC-SDS ≥ 1.5 above birth length-SDS and/or birth weight-SDS
  5. ‡Postnatal relative macrocephaly is found in 38% of patients