Summary of copy number changes detected by array CGH, short clinical description and parental analysis
| Case | Clinical details* | Molecular karyotype | Parents | No of clones | Size (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 (www.ensembl.org/index.html) 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. | ||||||
| 1 | Retinal dystrophy, growth retardation, short fingers, low set ears, | 46,XY.arr cgh del(1)(p36.23p36.32) | Not determined | 5 | 4.6–8.1 | RP4-785P20, RP11-338N10 |
| epicanthic folds | ||||||
| 2 | Microcephaly, ventricular septal defect, large corneae, midface | 46,XY.arr cgh del(1)(p36.31p36.32) | De novo | 3 | 2.8–6.0 | RP4-785P20, RP11-49J3 |
| hypoplasia, presacral groove | ||||||
| 3 | Short stature, microcephaly, strabismus, unilateral renal agenesis, | 46,XX.arr cgh del(1)(q21.1q21.1) | Not determined | 2 | 0.9–4.0 | RP11-533N14, RP11-301M17 |
| simple ears | ||||||
| 4 | Epilepsy, brachydactyly type E, scoliosis, absence of some toenails, | 46,XX.arr cgh der(2)t(2;22)(q37;q13) | De novo | chr 2: 4 chr 22: 3 | 4.0–4.7 1.6–2.9 | chr2: RP11-556H17, RP11-15L18 chr22: cN75H12, RP5-925J7 |
| synophrys | ||||||
| 5 | Seizures, spasticity, hypotonia, hypoplastic cerebellum and brain stem, Dandy-Walker malformation | 46,XY.arr cgh dup(3)(p12.2p12.2) | Inherited (pat) | 3 | 0.5–2.1 | RP11-425D6, RP11-359D24 |
| 6 | Coarse facial features, Dandy-Walker malformation, wide pontine | 46,XX.arr cgh del(3)(p12.1) | Inherited (pat) | 1 | 0.1–2.5 | RP11-474M18 |
| cisterns, right cerebellar lobe atrophy, hirsutism, pigmented nevi | ||||||
| 7 | Pectus excavatum, sacral dimples, recurrent infections, sparse eyebrows, small high nasal bridge | 46,XY.arr cgh del(5)(q34q35.1)del(15)(q13.1) | Inherited (mat)¶ inherited (pat)‡ | chr 5: 8 chr 15: 2 | 6.9–11.8 0.8–3.5 | chr5:RP11-505G12, RP11-420L4, chr15:RP11-408F10, RP11-38E12 |
| 8 | Tetralogy of Fallot, double outlet right ventricle, hypertelorism, high and broad forehead, brachycephaly | 46,XX.arr cgh del(5)(q35.1q35.1) | De novo | 1 | 0.2–2.8 | RP11-20O22 |
| 9 | VSD, absent thumbs, growth retardation, hydronephrosis, preductal coarctation of aorta | 46,XX.arr cgh del(7)(pterqter) .ish 46,XX[92]/45,XX.−7[8] | De novo | 212 | 158 | CTB-164D18,RP4-764O12 |
| 10 | Axial hypotonia, short stature, stereotypic movements, hypertelorism, strabismus | 46,XY.arr cgh del(8)(q24.23q24.23) | Inherited (pat)‡ | 1 | 0.2–1.5 | RP11-17M8 |
| 11 | Chondrodysplasia punctata brachytelephalangic type, obesity, short stature, small deeply set nose, hypotonia | 46,Y.arr cgh der(X)t(X;9)(p22.32;p23) | De novo | chr 9: 16 chr X: 5 | chr 9:13.0–13.9 chr X: 5.4–6.9 | chr 9: RP11-187K14, GS1-77L23 chr X: RP11-60N3, CTB-98C4 |
| 12 | Short stature, microcephaly, VSD, preductal coarctation of aorta, | 46,XX.arr cgh der(9)t(9;20)(q34.3;q13.33) | De novo | chr 9: 4 chr 20: 7 | chr 9: 3.1–4.7 chr 20: 3.5–4.8 | del:RP11-399H11, GS1-135I17, dup:RP5-836E13, CTB-81F12 |
| midface hypoplasia | ||||||
| 13 | Hypotonia, spasticity, abdominal muscle hypoplasia, fine hair, macroglossia | 46,XX.arr cgh del(9)(q34q34) | De novo | 1 | 0.1–0.6 | GS1-135I17 |
| 14 | Valvar pulmonary stenosis, cleft uvula, epilepsy, hypoplastic corpus | 46,XX.arr cgh del(11)(q22.3q23.3) [66]/ | De novo | chr 9: 6 chr 11: 50 | del: 8.5–10.2 dup: 40.4–41.1 | del:RP11-531F16, RP11-114K7, dup:RP11-685N10, RP11-469N6 |
| callosum, hypoplastic genitalia | der(9)t(9;11)(qter;q21),del(11)(q22.3q23.3)[33] | |||||
| 15 | Carpal synostosis, macrocephaly, strabismus, oral frenulae, autistic behaviour | 46,XX.arr cgh del(10)(q25.1q26.11) | De novo | 10 | 8.2–10.3 | RP11-271I13, RP11-355F22 |
| 16 | Broad 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 novo | 14 | 12.2–13.9 | RP11-388D4, RP11-564N10 |
| trigonocephaly | ||||||
| 17 | Microbrachycephaly, almond shaped eyes, wide nasal bridge, large mouth, synophrys | 46,XX.arr cgh del(15)(q22.2q22.2) | Inherited (mat) | 1 | 0.2–3.2 | RP11-231A23 |
| 18 | Dysplastic 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 novo | 9 | 7.4–8.3 | RP11-433P17, RP11-148F10 |
| unilateral preauricular fistula | ||||||
| 19 | Generalised hypotonia, scoliosis, congenital heart disease, short stature, brachycephaly | 46,XY.arr cgh dup(17)(p13.3p13.3) | Not determined | 1 | 0.1–1.7 | RP11-135N5 |
| 20 | Camptodactyly, ectropion, hypoplastic cerebellar hemispheres and | 46,XY.arr cgh del(17)(p12p12) | Not determined | 1 | 0.1–2.3 | RP1-27J12 |
| vermis, hypertelorism, genital hypoplasia | ||||||
| 21 | Microcephaly, long eyelashes, long columella, deep presacral groove, lacrimal duct stenosis | 46,XX.arr cgh del(17)(q11.2q11.2) | De novo | 1 | 0.1–1.9 | RP11-474K4 |
| 22 | Psychiatric disorder, macrocephaly | 46,XX.arr cgh del(17)(q23.2q24.1) | De novo | 3 | 1.1–4.2 | RP11-115N5, RP11-74H8 |
| 23 | Small stature, narrow thorax, macrocephaly, downslanting palpebral | 46,XY.arr cgh del(18)(q12.3q12.3) | De novo | 2 | 1.4–4.6 | RP11-486C18, RP11-463D17 |
| fissures, prominent maxillary incisors | ||||||
| 24 | Joint laxity, scoliosis, hyperelastic skin, webbed neck, beaked nose | 46,XX.arr cgh dup(20)(q13.13q13.2) | De novo | 2 | 0.7–2.7 | RP5-1071L10, RP5-994O24 |
| 25 | Myopia, nasal speech, cleft uvula, pulmonary stenosis, strabismus | 46,XX.arr cgh del(22)(q12.2q12.2) | De novo | 2 | 0.7–2.2 | CTA-57G9, RP1-76B20 |
| 26 | Hypotonia, adduction of thumbs, claw toes, syndactyly fingers 3/4, dorsiflexion of the wrists | 46,XX.arr cgh del(22)(q13.33q13.33) | De novo | 3 | 1.4–1.9 | CTA-722E9, CTB-99K24 |
| 27 | Cleft lip and palate, truncus arteriosus type I, short neck, ptosis, uteronephrosis, | 46,XX.arr cgh dup(22)(q11.21 q11.21) | Inherited (pat) | 1 | 0.1–4.2 | XX-91c |
| 28 | Epilepsy, microcephaly, abdominal situs inversus, VSD, hypotonia | 46,XY.arr cgh dup(X)(p21.3p21.3) | Inherited (mat) | 2 | 0.3–1.2 | RP11-37E19, RP6-27C10 |