Table 1 Summary of genotypic and phenotypic characteristics of patients
From: Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
Patient No. | Dysmorphic features | Cognitive features | Growth features | Skeletal features | Congenital anomalies | Other features | Genotype | Inheritance |
|---|---|---|---|---|---|---|---|---|
1 | Mild dismorfic features | Intellectual disability, psychomotor and language delay | Microcephaly; normal height and weight | Normal | - | - | dup1q21.1 | Unknown |
2 | Dry hair with abnormal implant, hypotelorism | Learning disabilities | Height, weight and cranic circunference <3rd percentile | Bilateral clinodactyly of I, II, IV, V fingers | - | Encopresis | del1q21.1 | Paternal |
3 | Normal | Normal | Normal | Normal | - | - | dup1q21.1+ del1q21.1-q21.2 | De novo |
4 | Prominence of the metopic suture, plagiocephaly, hypotelorism | Normal | Height, weight and cranic circunference <3rd percentile | Bilateral clinodactyly of IV and V fingers and toes | Vesicoureteral reflux | - | del1q21.1 | Unknown |
5 | Protruding ears, prominent nasal bridge, short philtrum, micrognathia, spaced teeth | Intellectual disability | Microcephaly; normal height and weight | Normal | - | Spastic tetraparesis, strabism | del1q21.1 | De novo |
6 | Trigonocephaly, epicanthus, down-slanting palpebra fissures, large nasal bridge, thin upper lip, large mouth, small and dysplastic ears | Psychomotor delay | Normal | Thick fingers and broad thumbs and hallux | - | - | dup1q21.1 | Maternal |
7 | Sloping forehead, prominent occiput, flat nasal bridge, long philtrum, thin upper lip, large mouth, protruding tongue | Normal | Normal | Normal | Congenital hypothyroidism, ectopic urethral meatus | - | del1q21.1 | Maternal |