Table 1: Comparison of the main clinical indications of Patients 1 and 2 and six previously reported patients carrying 12q14 microdeletions.

Patient 1Patient 2Spengler et al. (2010) [3]Takenouchi et al. (2012) [4]Mari et al. (2009) [5]Menten et al. (2007) [2]
#D0502619
Menten et al. (2007) [2]
#4818
Buysse et al. (2009) [1]
#03g1858

Hg coordinates63,169,460–66,983,22960,220,054–65,843,601~66,200,000–67,550,00066,080,229–70,062,135~66,173,733–68,023,733~61,800,000–66,800,000~65,100,000–68,500,000~61,500,000–67,600,000

Deletion size (Mb)3.85.61.3541.85~3.4~6

PregnancyIUGRUncomplicatedIUGRSevere IUGRSevere IUGROligohydramniosHyperemesisUncomplicated

Birth measurementsWgt.: 2550 g, Lgt.: 48 cm, HC: 35 cmWgt.: 2600 g (75th centile), HC: 33 cm (75th–91th centile)Wgt.: 2700 g (−1.83 SD), Lgt.: 46 cm (−2.59 SD), HC: not notedWgt.: 527 g (−3.78 SD), Lgt.: 30.5 cm, HC: 22 cmWgt.: 1730 g (<10th centile), Lgt.: 43 cm (−4 SD), OFC: 29 cm (−3.66 SD)Wt.: 2300 g (<P3), Lgt.: not noted, OFC: not notedWgt.: at 3rd centile, Lgt.: at 10th centileWgt.: 2060 g (<P3), Lgt. & HC not noted

Growth parameters3 years: Wgt.: 11 kg (0.5 kg <3rd centile), Hgt.: 82.6 cm (−3.5 SD), HC: 49.5 cm (40th percentile)3 years 8 months: Wgt.: 17.4 Kg, HC: 54 cm, Hgt.: 102.2 cm1 year 9 months: Wgt.: 6.8 Kg (−5.4 SD), Hgt.: 70.8 cm (−4.5 SD), OFC: 43.7 (−3.3 SD)29 months: Wgt.: 10.5 kg (−0.75 SD), Hgt. 76 cm (−3.13 SD), HC: 42.5 cm (−3.53 SD)3 years: Wgt.: 6.5 Kg (−5 SD), Hgt.: 77 cm (−4.85 SD), OFC: 44.5 cm (−5.1 SD)14 years: Wgt.: 51.3 kg (mean for age), Hgt.: 142.3 cm (−3.5 SD), HC: 53.3 cm (−0.66 SD)18 years, Wgt.: 41 kg, Hgt.: 152 cm (both below 3rd centile)16 years: Hgt. 131.5 cm (−6.2 SD), HC: 49 cm (−4.4 SD)

Clinical presentationSevere SS, relative macrocephalyAbsolute macrocephalySS, FTT, relative macrocephalySS, severe FTTSevere proportionate SS, FTTSSSS, FTTProportionate SS, FTT

Developmental delayMildYesMildNot notedYesYesMildYes

Dysmorphic featuresAlternating esotropia, severe myopiaStrabismus, prominent brow, large and slightly low set eyesProminent head, slight triangle face, dysplastic ears, clinodactyly of 5th fingerCleft lip with alveolar cleft on the right, atrial septal defectTriangle face with prominent forehead, low set ears, vaulted palate, micrognathiaScoliosis, deep set eyes, bushy eyebrows, thin lipsTriangle face with wide spaced eyesSynophrys, mild hypertelorism, broad & high nasal bridge, micrognathia & maxillary overbite

Behavioural issuesPossible ADHD, mild ASDASDNot notedNoNot notedNot notedNot notedNot noted

HC: head circumference, OFC: Occipital Frontal Circumference, IUGR: Intrauterine Growth Retardation, ASD: Autism Spectrum Disorder, ADHD: Attention Deficit Hyperactivity Disorder, FTT: failure to thrive, and SS: short stature.