. Author manuscript; available in PMC: 2006 Aug 21.

Published in final edited form as: Am J Med Genet A. 2006 Jul 15;140(14):1580–1586. doi: 10.1002/ajmg.a.31321

TABLE I.

Results Cytogenetic Analysis

Probe name	Location	Patient 1 (FISH)	Patient 2 (array-CGH)	Patient 2 (FISH)	Mother (FISH)
Chromosome 11
RP1-44H16	11pter	N		N	N
RP11-42L18	11q22			N
RP11-235P12	11q23.3		N	N
RP11-114K7	11q23.3		N	N
RP11-840K20	11q23.3	N	N	N
RP11-1058J6	11q23.3	N	N	N
RP11-728G20	11q23.3	N/Dup^a	Dup	N/Dup^a	N/M^b
RP11-1147E8	11q23.3	N/Dup^a	Dup	N/Dup^a	N/M^b
RP11-2O20	11q23.3	Dup	Dup	Dup	M
RP11-890O20	11q23.3		Dup	Dup	M
RP11-786F19	11q23.3		Dup	Dup	M
RP11-664F8	11q23.3	Dup	Dup	Dup	M
RP11-778O17	11q23.3		Dup	Dup
RP11-158K18	11q23.3	Dup	Dup	Dup
RP11-77K9	11q24.1		Dup	Dup
RP11-102M23	11q25			Dup
RP1-26N8	11qter	Dup		Dup	M
Chromosome 12
CTB-124K20	12pter	N		N	N
RP11-29G23	12q12			N
RP11-269C10	12q24		N	N
RP11-813G9	12q24		N
RP11-91M21	12q24	N	N	N
RP11-19F21	12q24.21	N		N
RP11-641K13	12q24.32		N	N
RP11-1023E10	12q24.32	N	N	N
RP11-503G7	12q24.32	N	N	N	N
RP11-1038O14	12q24.33	N	N	N	N
RP11-452D11	12q24.33	Del	N	Del	M
RP11-962N24	12q24.33	Del		Del	M
RP1-221K18	12qter	Del		Del	M

N, normal signal; Dup, duplication; Del, deletion; M, moved to derivative chromosome; blank space, not tested.

Lower signal intensity of duplicated signal on derivative chromosome.

Lower signal intensity of signal on derivative chromosome 11 and 12 (“split-spot”).