Table 1 Characteristics of patients with subtelomeric aberrations identified by quantitative PCR
Case No. | Age | Sex | Aberration deletion (del) duplication (dup) | Inheritance | Approximate size (Mb, Kb) | Clinical Features (in addition to MR/DD) | de Vries Score |
|---|---|---|---|---|---|---|---|
1 | 5 mo | m | del 13q dup 9p | de novo de novo | 9.2–11.9 Mb 7.8–8.3 Mb | epicanthic folds; hypertelorism; strabism; microcephaly; small stature, kinking of the aorta; clubfeet; micropenis; cryptorchism; hypotonia; impaired hearing | 8 |
2 | 1 y 5 mo | f | del 11q dup 6p | de novo de novo | 8.5–9.5 Mb 1.8–2.3 Mb | hypertelorism; round face, low set ears; posteriorly rotated ears; microcephaly; small stature; clinodactyly of both 4th fingers; hearing loss; hypotonia; wide spaced nipples; complex heart defect | 6 |
3 | 10 days | m | del 4p | de novo | 1.9–7.7 Mb | growth retardation, microcephaly, prominent glabella, high forehead, prominent nasal bridge, hypertelorism, micrognathia, bilateral single transverse palmar creases, clubfeet | 5 |
4 | 1 y 11 mo | f | del 1q dup 2p | de novo paternal | 5.6–7.1 Mb n.d. (CNP) | microcephaly, small stature, prominent forehead, synostosis of the frontal suture, large earlobes, high palate, cleft uvula, hypoplastic finger and toe nails | 4 |
5 | 2 y 7 mo | f | dup 19q | de novo | 4.8–5.0 Mb | prominent forehead, deep hair line, broad nasal bridge, epicanthus, downward slanting palpebral fissures, low set and posteriorly rotated ears, short neck, midface hypoplasia; dystrophy; pectus carinatum (11) | 2 |
6 | 5 y 4 mo | m | del 6q | maternal* | 4.2–5.3 Mb | high forehead, long philtrum, overfolded helix of both ears, hypotonia | 1 |
7 | 14 y 3 mo | f | del 1q | n. e. normal sister showed no aberration | > 1.42 Mb | broad, flat nasal bridge; anteverted nares; epicanthus; refractive anomaly; flat philtrum; dental crowding; atrial septal defect; microcephaly; epilepsy; hearing loss; hypotonia; talipes valgus and falt feet; tapering fingers; cortical atrophy; hip dislocation | 7 |
8 | 5 mo | f | dup 1p | n. e. | > 1.75 Mb | retrogenia; high palate; pterygium colli; broad nasal bridge; anteverted nares; hypertelorism; strabismus; low set ears; overfolded helices; microcephaly; atrial septal defect; urachus cyst; wide distance of mamillas; ventrally positioned anus; hypotonia | 5 |
9 | 13 y 5 mo | m | del 21q | n. e. | 2.4–4.9 Mb | low set ears; broad nasal bridge; anteverted nares; refractive anomaly; retarded bone age; autism; tapering fingers; long toes; | 4 |
10 | 10 y 9 mo | f | del 20q | n. e. | > 274 Kb | no additional features | 0 |
11 | 7 y 1 mo | m | dup 10q | n. e. | 110–180 Kb | hypertelorism; balcony forehead; hyperopia; hypotonia; hypothyreosis; hearing loss; clinodactyly; retardation of myelination; | 5 |
12 | 7 y 2 mo | f | dup 10q | paternal | n.d. (CNP) | severe MR; hearing loss; ataxia; seizures; autism; | 3 |
13 | 9 y 8 mo | m | dup 7p | n. e. | > 792 Kb | epicanthus | 0 |
14 | 10 mo | m | dup 7p | paternal | n.d. (CNP) | epilepsy; short tapering fingers; clinodactyly; club feet; sandals' gap | 6 |
15 | 9 y 2 mo | f | dup 7p | maternal | n.d. (CNP) | retardation of speech | 0 |
16 | 4 y 4 mo | m | del 5p | paternal | n.d. (CNP) | microcephaly; small stature; hypotonia; clinodactyly; plump, big fingers; sandals' gap; pes adductus; pharyngeal cyst; arachnoid cyst; latent hypothyreosis; growth hormone deficiency | 5 |
17 | 3 y 11 mo | m | del 8p | maternal | n.d. (CNP) | retardation of speech; hemihypertrophy | 0 |