Table 1

 Phenotypes and detected chromosome imbalance

CaseGenderAgeMRPhenotypeChromosome imbalanceEstimated size in MbArray-CGH resultsOriginDeleted clones
1Female2SevereFacial dysmorphism, seizures, cleft palate, hirsutism, prenatal growth retardation, syndactyly, and camptodactylydel(2)(q24.3q31.1)10Deletion of 12 clonesDe novoRP11-91O10, AC016723.11, RP11-79E23, RP11-80D14, RP11-81F17, RP11-91L3, RP11-79D11, RP11-91L23, RP11-91A9, RP11.79C17, AC013467.8, RP11-12N7
2Female13SevereFacial dysmorphism, seizures, microcephaly, anal atresia, heart malformations, postnatal growth retardationdel(2)(q22.3q24.1)14Deletion of 13 clonesDe novoRP11-357J9, RP1167J2, RP11-90K5, AC018465.8, RP11-375H16, RP11-79A11, RP11-364H22, RP11-185M22, RP11-17E6, RP11-11C17, RP11-44N6, RP11-79B5, RP11-546J1
3Female11SevereFacial dysmorphism, pre- and postnatal growth retardation, microcephaly, seizuresdel(4)(p16.2p16.3)6Deletion of 11 clonesDe novoRP11-262P20(E), RP11-262P20, RP11-478C1, RP11-808B21, RP3-323A24, RP11-520M5, RP11-357G3, RP11-91B20, RP11-89K12, AC092463.5, RP11-101J14
4Male10Mod-erateFacial dysmorphism, postnatal growth retardation, overweight, behavioural disorder, sleeping disturbancedel(17)(p11.2)2Deletion of 2 clonesDe novoRP11-90G21, RP11-404D6