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Table 1 Summary of altered regions, parental analysis and major clinical features in patients with velocardiofacial-like syndrome (VCFS-like) validated by multiplex ligation-dependent probe amplification (MLPA).

From: BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

Sample GAIN Sample LOSS Altered clones Region Size kb Start (Build 36) End (Build 36) Genes LOCUS (DGV) MLPA probes Inheritance Clinical features
V5   RP11-315I20
RP11-293J20
1q21.1 212 144149999 144361868 TXNIP, POLR3GL, ANKRD34, LIX1L, RBM8A, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT17, POLR3C, ZNF364 Locus 0305 GNRH2 PIAS3 de novo Cardiac anomalies (coarctation of the aorta); Velopharyngeal insufficiency; dysmorphic facial features; language impairment, mental retardation, cognitive and learning problems, immunological abnormalities.
  V5 RP11-337C18
RP11-533N14
RP11-314N2
RP11-301M17
RP11-115G11
1q21.1 1,150 145073765 146329018 PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPRB9 Locus 0305 BCL9 NBPF1 de novo  
V26   RP11-314P12
RP11-292F22
RP11-192A16
RP11-30N1
RP11-115A11
10q11.22 743,52 46487806 47231326 PPYR1, ANXA8L, CTGLF4 Locus 2984 PPYR1 Paternal Mild dysmorphic facial features, mild mental retardation, psychological anomalies, phobias
V8 V24 RP11-818K20
RP11-444L7
22q11.21 159 19847992 20006849 - Locus 4746 RP11-444L7 Both Paternal V8: Dysmorphic facial features, learning disabilities mental retardation, father with schizophrenia
V24: Overt submucos palate, mild facial dysmorphic features, mild mental retardation, learning disabilities, autistic behaviour, (brother with cardiac anomalie)
V11   RP11-138G4 22q13.2 142 39422672 39564831 SLC25A17, ST13   SLC25A17b Maternal Dysmorphic facial features, learning disabilities, language impairment, attention deficit disorder
  1. DGV, Database of Genomic Variants.