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Table 1 Characteristics of patients with subtelomeric aberrations identified by quantitative PCR

From: Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

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
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
  1. n. e. = not examined; n. d. = not determined; m = male; f = female; MR = mental retardation; DD = developmental delay, y = years, mo = months, *mother also mentally retarded, de novo in the mother, CNP = copy number polymorphism