Table 1

 Summary of chromosome abnormalities detected by array CGH and associated positive clones, QMPSF amplicons and FISH probes used for validation experiments, and parental analysis

CaseChromosome abnormalityEstimated size (Mb)CGH array clonesQMPSF amplicons*FISH probesParental analysis
NA, not available. Mb, megabases.
*All these abnormalities detected by array CGH were confirmed by QMPSF with one or two amplicons; †clones showing weak signals.
Fetus 17Deletion 22q11.23RP1-157 E19Normal
RP1-238 C15TBX1NA
RP11-316 L10
Fetus 21Deletion 15qtel3–10GS-251P4BLP2RP1-154 P1Normal
CTD-2353 N21FLJ25005
RP1-154 P1
Fetus 27Deletion 6qtel<5RP1-57 H24TBPNAMaternal
DLL1deletion
Fetus 41Deletion 16q23.1–q23.35–10RP6-200 H22CDH13NANormal
RP11-43 L5WWOX
Fetus 52Duplication 18q60RP11-666O22†KIAA0863RP11-507P3Normal
(length ofRP11-673 D22PARD6G
18q arm)GS-185O2†
GS-568A 15
GS-385 N22
RP11-676 O1
RP11-507 P3
Fetus 20Duplication 10qtel<1CTD-2545 L18CYP2ENAMaternal
GS1-261 B16Loc93426duplication
Fetus 24Duplication 10qtel<1CTD-2545 L18CYP2ENAPaternal
GS1-261 B16Loc93426duplication
Fetus 36Duplication 10qtel<1CTD-2545 L18CYP2ENAMaternal
GS1-261 B16Loc93426duplication