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Table 1 Comparison of phenotypic findings among the reported patients with 13q14q31 deletions and the proband

From: 13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

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
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,
na obesity, hyperactivity, dysphagia, sleep disturbance, dysgraphia
  1. aThe deletion genomic interval has been deduced from the paper based on the localization of the a-CGH 4x44K kit (Agilent Technologies) oligonucleotide probes
  2. bThe deletion genomic maximum interval has been deduced from the paper based on the localization of the not deleted SNPs before and after the area of deletion (rs7322455 and rs9522451)
  3. cOnly coding genes have been considered; each gene has been counted once regardless of the number of its isoforms
  4. –, absent; +, present; mos mosaic; na not available; nr not reported but, possibly, not evaluated