Table 1

 Summary of copy number changes detected by array CGH, short clinical description and parental analysis

CaseClinical details*Molecular karyotypeParentsNo of clonesSize (MB)†Flanking clones
*All patients presented with mental retardation. Only the five most relevant dysmorphic features are retained in the table. Full phenotypic descriptions together with the genotype data can be viewed in Ensembl ( through the Decipher DAS server.
†Sizes of the aberrations are shown from a minimal to maximal size in megabases.
‡This imbalance has already proven to be polymorphism.
¶Mother has the same phenotype including mental retardation. Further family could not be investigated.
chr, chromosome; mat, maternal; pat, paternal; VSD, ventricular septal defect.
1Retinal dystrophy, growth retardation, short fingers, low set ears,46,XY.arr cgh del(1)(p36.23p36.32)Not determined54.6–8.1RP4-785P20, RP11-338N10
epicanthic folds
2Microcephaly, ventricular septal defect, large corneae, midface46,XY.arr cgh del(1)(p36.31p36.32)De novo32.8–6.0RP4-785P20, RP11-49J3
hypoplasia, presacral groove
3Short stature, microcephaly, strabismus, unilateral renal agenesis,46,XX.arr cgh del(1)(q21.1q21.1)Not determined20.9–4.0RP11-533N14, RP11-301M17
simple ears
4Epilepsy, brachydactyly type E, scoliosis, absence of some toenails,46,XX.arr cgh der(2)t(2;22)(q37;q13)De novochr 2: 4 chr 22: 34.0–4.7 1.6–2.9chr2: RP11-556H17, RP11-15L18 chr22: cN75H12, RP5-925J7
5Seizures, spasticity, hypotonia, hypoplastic cerebellum and brain stem, Dandy-Walker malformation46,XY.arr cgh dup(3)(p12.2p12.2)Inherited (pat)30.5–2.1RP11-425D6, RP11-359D24
6Coarse facial features, Dandy-Walker malformation, wide pontine46,XX.arr cgh del(3)(p12.1)Inherited (pat)10.1–2.5RP11-474M18
cisterns, right cerebellar lobe atrophy, hirsutism, pigmented nevi
7Pectus excavatum, sacral dimples, recurrent infections, sparse eyebrows, small high nasal bridge46,XY.arr cgh del(5)(q34q35.1)del(15)(q13.1)Inherited (mat)¶ inherited (pat)‡chr 5: 8 chr 15: 26.9–11.8 0.8–3.5chr5:RP11-505G12, RP11-420L4, chr15:RP11-408F10, RP11-38E12
8Tetralogy of Fallot, double outlet right ventricle, hypertelorism, high and broad forehead, brachycephaly46,XX.arr cgh del(5)(q35.1q35.1)De novo10.2–2.8RP11-20O22
9VSD, absent thumbs, growth retardation, hydronephrosis, preductal coarctation of aorta46,XX.arr cgh del(7)(pterqter) .ish 46,XX[92]/45,XX.−7[8]De novo212158CTB-164D18,RP4-764O12
10Axial hypotonia, short stature, stereotypic movements, hypertelorism, strabismus46,XY.arr cgh del(8)(q24.23q24.23)Inherited (pat)‡10.2–1.5RP11-17M8
11Chondrodysplasia punctata brachytelephalangic type, obesity, short stature, small deeply set nose, hypotonia46,Y.arr cgh der(X)t(X;9)(p22.32;p23)De novochr 9: 16 chr X: 5chr 9:13.0–13.9 chr X: 5.4–6.9chr 9: RP11-187K14, GS1-77L23 chr X: RP11-60N3, CTB-98C4
12Short stature, microcephaly, VSD, preductal coarctation of aorta,46,XX.arr cgh der(9)t(9;20)(q34.3;q13.33)De novochr 9: 4 chr 20: 7chr 9: 3.1–4.7 chr 20: 3.5–4.8del:RP11-399H11, GS1-135I17, dup:RP5-836E13, CTB-81F12
midface hypoplasia
13Hypotonia, spasticity, abdominal muscle hypoplasia, fine hair, macroglossia46,XX.arr cgh del(9)(q34q34)De novo10.1–0.6GS1-135I17
14Valvar pulmonary stenosis, cleft uvula, epilepsy, hypoplastic corpus46,XX.arr cgh del(11)(q22.3q23.3) [66]/De novochr 9: 6 chr 11: 50del: 8.5–10.2 dup: 40.4–41.1del:RP11-531F16, RP11-114K7, dup:RP11-685N10, RP11-469N6
callosum, hypoplastic genitaliader(9)t(9;11)(qter;q21),del(11)(q22.3q23.3)[33]
15Carpal synostosis, macrocephaly, strabismus, oral frenulae, autistic behaviour46,XX.arr cgh del(10)(q25.1q26.11)De novo108.2–10.3RP11-271I13, RP11-355F22
16Broad thumbs, nasal speech, strabismus, deep hoarse voice,46,XX.arr cgh dup(13)(q31.3q33.1) .ish 46,XX[40]/46,XX dup(13)(q31.3q33.1)[60]De novo1412.2–13.9RP11-388D4, RP11-564N10
17Microbrachycephaly, almond shaped eyes, wide nasal bridge, large mouth, synophrys46,XX.arr cgh del(15)(q22.2q22.2)Inherited (mat)10.2–3.2RP11-231A23
18Dysplastic ears, median cleft palate, small penis, brachycephaly,46,XY.arr cgh dup(16)(p13.2p13.3) .ish der(22)t(16;22)(p13.2p13.3;p21)De novo97.4–8.3RP11-433P17, RP11-148F10
unilateral preauricular fistula
19Generalised hypotonia, scoliosis, congenital heart disease, short stature, brachycephaly46,XY.arr cgh dup(17)(p13.3p13.3)Not determined10.1–1.7RP11-135N5
20Camptodactyly, ectropion, hypoplastic cerebellar hemispheres and46,XY.arr cgh del(17)(p12p12)Not determined10.1–2.3RP1-27J12
vermis, hypertelorism, genital hypoplasia
21Microcephaly, long eyelashes, long columella, deep presacral groove, lacrimal duct stenosis46,XX.arr cgh del(17)(q11.2q11.2)De novo10.1–1.9RP11-474K4
22Psychiatric disorder, macrocephaly46,XX.arr cgh del(17)(q23.2q24.1)De novo31.1–4.2RP11-115N5, RP11-74H8
23Small stature, narrow thorax, macrocephaly, downslanting palpebral46,XY.arr cgh del(18)(q12.3q12.3)De novo21.4–4.6RP11-486C18, RP11-463D17
fissures, prominent maxillary incisors
24Joint laxity, scoliosis, hyperelastic skin, webbed neck, beaked nose46,XX.arr cgh dup(20)(q13.13q13.2)De novo20.7–2.7RP5-1071L10, RP5-994O24
25Myopia, nasal speech, cleft uvula, pulmonary stenosis, strabismus46,XX.arr cgh del(22)(q12.2q12.2)De novo20.7–2.2CTA-57G9, RP1-76B20
26Hypotonia, adduction of thumbs, claw toes, syndactyly fingers 3/4, dorsiflexion of the wrists46,XX.arr cgh del(22)(q13.33q13.33)De novo31.4–1.9CTA-722E9, CTB-99K24
27Cleft lip and palate, truncus arteriosus type I, short neck, ptosis, uteronephrosis,46,XX.arr cgh dup(22)(q11.21 q11.21)Inherited (pat)10.1–4.2XX-91c
28Epilepsy, microcephaly, abdominal situs inversus, VSD, hypotonia46,XY.arr cgh dup(X)(p21.3p21.3)Inherited (mat)20.3–1.2RP11-37E19, RP6-27C10