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. 2014 Dec 12;7:61. doi: 10.1186/s13039-014-0061-z

Table 1.

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

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

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.