Table 2

Summary of copy number changes detected by array-CGH, associated clinical data and parental analysis

CaseClinical detailsKaryotype‡Result of microarray-CGHConfirmation, parent analysisFlanking clones
*Cases ascertained from France.
†Cases ascertained from the UK.
‡Karyotype does not include information arising from array-CGH analysis.
§Performed by genotyping.
¶Performed by FISH.
**Performed by tiling path array-CGH.
††Performed by array-CGH.
CGH, comparative genomic hybridisation.
1*Microcephaly, short stature, facial dysmorphism, developmental delay, seizures46, XXDeletion of single clone at 1p36.33Yes§, apparently de novo§RP11-465B22
2†Microcephaly, developmental delay, severe learning difficulties46, XXDuplication of five clones at 1p36.11–12Yes¶, de novo¶RP11-509F14 RP1-144C9
3†Microcephaly, severe learning difficulties, cleft palate46, XXDeletion of 14 clones at 1p31.1–31.3Yes¶, de novo¶RP4-662P1 RP11-25F16
4*Overgrowth, severe mental retardation, craniosynostosis, macrocephaly46, XYDeletion of 11 clones at 9q22.3Yes§, apparently de novo§RP11-333I7 RP11-547C13
5†Severe learning difficulties, short stature, mild contractures and patchy skin pigmentation46, XYDeletion of single clone at 17q21.31Yes¶, de novo¶RP5-843B9
6†Intrauterine growth retardation, developmental delay, cutis aplasia46, XYDeletion of single clone at 19q13.11Yes¶, de novo¶RP11-413M10
7*Mental retardation, seizures, microcephaly, constipation, brachydactyly and syndactyly46, XXDeletion of 7 clones at 21q22Yes§, apparently de novo§RP11-98O13 RP11-113F1
8†Microcephaly, short stature, Dandy-Walker malformation, developmental delay46, XYDuplication of two clones at 3p26.2–3Yes¶, inherited (paternal) ¶RP11-95E11 RP11-10H6
9*Severe learning difficulties, postnatal growth retardation and facial dysmorphism46, XYDuplication of single clone at 6q13Yes**, inherited (maternal)††RP11-462G2
10†Microcephaly, developmental delay, kyphoscoliosis46, XY t(1;5) de novoDeletion of two clones at 13q33.3–q34Yes¶, inherited (maternal)¶RP11-141M24 RP11-40E6
11*Seizures, ataxia, severe mental retardation, hyperphosphatasia, facial dysmorphism46, XXDuplication of two clones at Xp22.3Not done, inherited (maternal)††RP11-483M24 RP11-323F16
12*Developmental delay, cryptorchidism, supernumerary nipple, facial dysmorphism46, XYDuplication of single clone at Xq11.2Not done, inherited (maternal)††RP13-34C21