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Fichera et al. J Transl Genet Genom 2020;4:114-32 I http://dx.doi.org/10.20517/jtgg.2020.16 Page 117

Table 1. Clinical features of the six subjects with 1q deletion
Sporadic cases Family
Case 1 Case 2 Case 3 Case 4 Case 5 Case 6
Genotype
Chromosome 1q23.1q24.2 1q23.3q24.2 1q24.2q25.3 1q24.3q31.3 1q24.3q25.2 1q24.3q25.2
bands
180k CGH array: chr1:164358165- chr1:166325047- chr1:170500104- Chr1: 172579926- chr1:172667560- chr1:172667560-
deleted interval, 168556004 176709133 184283033 195051375 178548677 178548677
hg19)
Size of the deletion 4.1 Mb 10.3 Mb 13.7 Mb 22.5 Mb 5.9 Mb 5.9 Mb
Critical region SRO-P SRO-P, 2, -I SRO-I, -D SRO-I, -D None None
involved*
Inheritance De novo De novo De novo De novo De novo Pat inherited
Parental origin Not tested Mat Pat Not tested Pat Pat
Phenotype
Age at diagnosis 17 years 4 years 7 years 4 years 38 years At birth
Sex M M M M M F
Mother’s age at 29 years 40 years 18 years 34 years 31 years 31 years
birth
Father’s age at 31 years 43 years 20 years 34 years 37 years 38 years
birth
Previous clinical None Aarskog-Scott Aarkog-Scott None None
suspicion and Robinow and Robinow
Syndromes Syndromes
Previous negative K, Tel-MPLA, Frax- K, Tel-Fish, FDG1, K, FDG1 gene K None None
genetic testing A/-E GJB-WSI** gene variant
variants
Perinatal
IUGR No Yes Yes Yes No Yes
Week of gestation At term 40 weeks 36 weeks 43 weeks NR 37 weeks
Birth weight 50th percentile 3 rd percentile 3rd percentile -3 SD NR 3rd percentile
Birth OFC 25th percentile -2 SD 3rd percentile NR NR -2 DS
Birth length 50-75th percentile -1.75 SD 3rd percentile NR NR 10th percentile
Breast feeding Yes No NR NR No Yes
difficulties
Post-natal growth No Yes Yes Yes No No
delay
At last evaluation
Age 18 years 5 years 7 years 10 years 38 years 8 months
Weight 10-25th percentile -2 SD << 3rd percentile < 10th 25th percentile 10-25th percentile
OFC 25-50th percentile -2 SD -4 SD -3 SD 25th percentile -3 SD

Height ≤25th percentile -3.5 SD -4 SD -2 SD 25th percentile 50-75th percentile
Neurodevelopment and CNS
Intellectual Moderate (IQ:54) Moderate Severe (IQ:38) Severe (IQ:44) No NA
disability (degree) (IQ:50)
Delayed/absent Coprolalia and Absent Absent Absent No NA
speech soliloquy
Hypotonia Yes No Yes with joint laxity No No
Epilepsy/seizures No + (Focal epilepsy) Non-epileptic No No No
myoclonus
Sensorineural No + (mild) No NR No NT
hearing loss
Brain MRI Normal Enlarged NT Thin corpus NT NT
ventricles callosum
Behavior Repetitive Aggressiveness, Impulsiveness None
movements, OCT, hyperactivity
apathy, abulia
Facial dysmorphisms
Sparse hair/ No Yes Yes Yes No No
eyebrow
Hypertelorism No Yes Yes No No
Dysplastic ears Yes Yes Yes Yes No No