Table 1 Comparison of phenotypic findings among the reported patients with 13q14q31 deletions and the proband
Reference | Slavotineka and Lacbawana [16] | Caselli et al [17] (Case 2) | Ngo et al [18] | Kogan et al [19] | Malbora et al [20] | Ossandon et al [21] (Case 7) | DECIPHER pt 1732 | This report |
|---|---|---|---|---|---|---|---|---|
Cytogenetic bands | 13q14.12–q31.2 | 13q14.11–q31.1 | 13q14.2–q31 | 13q14.11–q31.2 | 13q14.2–q31.3 | 13q14.11–q31 | 13q14.11–q31.1 | 13q14.13–q31.1 |
Genomic coordinates (GRCh37/hg19) | na | chr13:44,348,617-80,378,610a | na | chr13:43,935,154-89,817,398b | chr13:47,879,024-90,433,037 | na | chr13:44,348,617-80,378,610 | chr13:46,968,080-87,381,985 mos |
Size (Mb) | na | ~ 36 | na | ~ 46 | ~ 42.5 | ~ 38 | ~ 36 | ~ 40 |
Number of RefSeq genes (including RB1)c | na | 105 | na | 109 | 85 | 156 | 105 | 87 |
Inheritance | na | de novo | na | de novo | de novo | na | de novo | de novo |
Age (y) | 16 | 2–3 | 3 | < 1, 3 | < 2 | < 1 | 3 | 14 |
Gender | F | M | F | M | F | na | M | M |
Growth retardation | + | + (<3rd p) | – | + | + | na | – | – |
Intellectual disability (moderate to severe) | severe | nr | + | severe | moderate | na | + | – |
Developmental delay | + | + | nr | severe | nr | na | – | – |
Hypotonia | nr | + | – | + | + | + | – | – |
Brain abnormalities | nr | corpus callosum hypoplasia | nr | diffuse polymicrogyria, corpus callosum dysplasia, delayed myelination and prominence of the infra- and supratentorial vasculature | olivopentocerebellar atrophy | corpus callosum dysgenesis | – | cerebral hamartoma |
Structural eye abnormalities | diffuse pigmentary retinopathy and atrophy of the optic nerves; bilateral ptosis with strabismus | iris heterochromia | right leukoria | prominent exotropic eyes | ptosis and total ophthalmoplegia at right side, strabismus at left side; bilateral iris heterochromia and telecantus | na | – | – |
Retinoblastoma | – | +, unilateral | +, unilateral | +, bilateral | – | +, bilateral | + | – |
Gastrointestinal abnormalities | – | – | – | + | – | na | – | – |
Limb abnormalities | hands: short, normally positioned thumbs and halluces, brachydactyly of the fingers and toes with nail hypoplasia and fifth finger clinodactyly, second and fourth toes overlapped third toes; feet: bilateral metatarsus adductus and prominent heels | short V toe | – | – | overlapped left toes | na | – | stubby hands |
Skeletal abnormalities | scoliosis convex to the right, bilateral contractures of the hips and knees | nr | – | – | left coxa dislocation | na | – | – |
Broad forehead | + | +, broad and high | – | + | + | na | + | – |
Hypertelorism | + | – | – | – | + | na | – | |
Broad prominent nasal bridge | + | –, short nose | – | – | + | na | – | – |
Malformed ears | large, low-set and posteriorly rotated | +, thick and everted auricular lobes, thick helix | + | – | +, antevert ear lobes | na | + | – |
Deeply grooved philtrum | – | +/− | + | –, prominent | + | na | + | – |
Downturned mouth | +, wide mouth | – | – | + | – | na | – | – |
Thick lower lip | + | +, everted | thin lips | + | – | na | – | – |
Cleft palate | + | – | – | + | – | na | – | – |
Micrognathia | + | – | – | + | + | na | – | – |
Other dysmorphisms | trigonocephaly, sparse hair, upslanted eyebrows, downslanting palpebral fissures, epicanthic folds, anteverted nares, broad nasal tip, irregular dentition with dental crowding, large, one neck pit, a cafe´-au-lait patch on the chest | – | bushy eyebrow, anteverted nostrils, hirsutism | triangular face, downslanting palpebral fissures, bifid uvula | vanished umbilicus | na | – | round face, bushy eyebrows |
Other minor anomalies | Tanner stage I female genitalia with opening of the labia majora extended posteriorly to the anus, bilateral inguinal hernias | – | – | bilateral inguinal hernias | – | na | – | – |
Medical problems | systolic murmur (grade II/VI) at the left sternal border, right atrial enlargement revealed by echocardiography, hearing loss | minimum aortic reflux | – | hearing loss | lipid abnormality, hypothyroidism | na | – | obesity, hyperactivity, dysphagia, sleep disturbance, dysgraphia |