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Table 1 Clinical features of patients with 19q13.11 deletion syndrome (MIM613026)

From: 19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype

Patient 1 2 3 4 5 6 7 8 9 10 11 Proband Total
Size of the deletion (Mb) 11 6.16 4.27 3.19 2.4 1.74 2.63 7.87 1.37 8.16 2.30 2.49  
Gender F M M M M M F M F F M M 4 F/8 M
Age [years. months] 3.0 6.0 9.2 5.0 4.10 14 8.0 ϕ 6.5 5.6 1.6 6.7  
Preterm delivery [≤38 weeks] + + + + + + + + +    + 10/10
Development characteristics              
Prenatal growth retardation + + + + + + + + + - + + 11/12
Feeding problems + + + + + + -   + + + + 10/11
Postnatal growth retardation + + + + + + +   + + + + 11/11
Slender habitus + + + + - + -   +    + 7/9
Little subcutaneous fat + + + +    -   +    + 6/7
DD/ID + + + + + + +   + + + + 11/11
Speech disturbance + + + + + + +   + + + + 11/11
Microcephaly + + + + + + +   + + + + 11/11
Minor Facial dysmorphic features* + + + + + + + + + + + + 12/12
Long face + + + + + + - a + + +   + 10/11
High frontal hairline + + + +b + +   + + +   + 10/10
High forehead + + + + + +    + +   + 9/9
Eye abnormalities +c - +d +e -   +f      +c 5/7
V-shaped nasal tip + + + + + +     +   + 8/8
Hypoplastic nasal alae + + + + + +     +   + 8/8
Low-set columella   + +    + +      + 5/5
Thin lips + + + + + + + +   +   + 10/10
Retro-micrognathia + + + + + + + + + - + + 11/12
Large ears or low-set ears + + + + + + + + + +   + 11/11
Signs of ectodermal dysplasia              
Aplasia cutis in midline of scalp + + + + + + -   + - + + 9/11
Thin/dry skin   + + + +     + - - + 6/8
Thin-sparse hair   + + + + + -   + - - + 7/10
Thin-sparse eyebrows/eyelashes + + + + + + +   + - - + 9/11
Teeth abnormalities   +g    +h - +i    +j - +j 5/7
Dysplasic nails   + + - + - -   + - - + 5/10
Genital abnormalities              
Hypospadias NA + + + + + NA + NA NA + + 8/8
Testicular ectopia NA - + + + - NA   NA NA + + 5/7
Bifid scrotum NA + - - + - NA   NA NA - + 3/7
Extremity abnormalities              
Long/tapering fingers + + +   + + +    +   + 8/8
Clinodactyly of the 5th finger + + + + + + -      + 7/9
Abnormal positioning of the feet +     + +    -    + 4/5
Overlapping of the toes + + - - - - -   +    + 4/9
Cutaneous syndactyly F/T   - + + + + -   - + + + 7/10
Others              
Recurrent airways infections +    + + + -   +    + 6/7
Heart disease +   +   - + -   + - + - 5/9
Inguinal hernia     +        + + 3/3
Febrile seizure          +   + + 3/3
Endocrine abnormalities   +     +    +    - 3/4
  1. Patients: (1) Kulhayra et al, [1](2–4) Malan et al, [2](5) Schuurs-Hoeijmakers et al, [3](6–7) Gana et al, [4](8) Lin et al, [5](9) Forzano et al, [6] and (10–11) Chowdhury et al. [7] The total number of patients with a specific phenotype differs depending on whether the phenotype was specifically mentioned in the reports; only those reported are counted, and blank spaces correspond to data not documented. *We included the reported facial features and also features that were not reported in cases where evaluation of the published photographs was possible. Abbreviations: F, female; M, male; ϕ, foetus aborted at the 28th week of gestation; DD/ID, developmental delay/intellectual disability; F/T, fingers or toes; +, present; -, absent; NA, not applicable. Clinical findings: (a)round face, (b)frontal upsweep of hair, (c)strabismus, (d)microcornea-cataract, (e)epiblepharon, (f)astigmatism, (g)single median incisor, (h)teeth irregularly placed, (i)hypodontia and (j)multiple caries.