Table 2

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

Case	Clinical details	Karyotype‡	Result of microarray-CGH	Confirmation, parent analysis	Flanking 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, seizures	46, XX	Deletion of single clone at 1p36.33	Yes§, apparently de novo§	RP11-465B22
2†	Microcephaly, developmental delay, severe learning difficulties	46, XX	Duplication of five clones at 1p36.11–12	Yes¶, de novo¶	RP11-509F14 RP1-144C9
3†	Microcephaly, severe learning difficulties, cleft palate	46, XX	Deletion of 14 clones at 1p31.1–31.3	Yes¶, de novo¶	RP4-662P1 RP11-25F16
4*	Overgrowth, severe mental retardation, craniosynostosis, macrocephaly	46, XY	Deletion of 11 clones at 9q22.3	Yes§, apparently de novo§	RP11-333I7 RP11-547C13
5†	Severe learning difficulties, short stature, mild contractures and patchy skin pigmentation	46, XY	Deletion of single clone at 17q21.31	Yes¶, de novo¶	RP5-843B9
6†	Intrauterine growth retardation, developmental delay, cutis aplasia	46, XY	Deletion of single clone at 19q13.11	Yes¶, de novo¶	RP11-413M10
7*	Mental retardation, seizures, microcephaly, constipation, brachydactyly and syndactyly	46, XX	Deletion of 7 clones at 21q22	Yes§, apparently de novo§	RP11-98O13 RP11-113F1
8†	Microcephaly, short stature, Dandy-Walker malformation, developmental delay	46, XY	Duplication of two clones at 3p26.2–3	Yes¶, inherited (paternal) ¶	RP11-95E11 RP11-10H6
9*	Severe learning difficulties, postnatal growth retardation and facial dysmorphism	46, XY	Duplication of single clone at 6q13	Yes**, inherited (maternal)††	RP11-462G2
10†	Microcephaly, developmental delay, kyphoscoliosis	46, XY t(1;5) de novo	Deletion of two clones at 13q33.3–q34	Yes¶, inherited (maternal)¶	RP11-141M24 RP11-40E6
11*	Seizures, ataxia, severe mental retardation, hyperphosphatasia, facial dysmorphism	46, XX	Duplication of two clones at Xp22.3	Not done, inherited (maternal)††	RP11-483M24 RP11-323F16
12*	Developmental delay, cryptorchidism, supernumerary nipple, facial dysmorphism	46, XY	Duplication of single clone at Xq11.2	Not done, inherited (maternal)††	RP13-34C21