Skip to main content

Table 1 Additional micro-aberrations of the 47,XYY proband

From: A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion

Nomenclature according to ISCN

Size

Important genes

7q11.23 (74,144,422-75,027,348)x3

882.9 Kb

GTF2I, NCF1, GTF2IRD2, STAG3L2, PMS2P5, GATSL1, WBSCR16, GTF2IRD2B, NCF1C, LOC100093631, GTF2IP1, GATSL2, SPDYE8P, PMS2L2, STAG3L1, TRIM74, TRIM73

11p15.5 (383,89-2014,937)x1

1.6 Mb

PKP3, SIGIRR, ANO9, PTDSS2, RNH1, HRAS, LRRC56, C11orf35, RASSF7, MIR210, LOC143666, PHRF1, IRF7, CDHR5, SCT, DRD4 , DEAF1, TMEM80, EPS8L2, TALDO1, PDDC1, CEND1, SLC25A22, LRDD, RPLP2, SNORA52, PNPLA2, EFCAB4A, CD151, POLR2L, TSPAN4, CHID1, AP2A2, MUC6, MUC2, MUC5B, TOLLIP, LOC255512, BRSK2, MOB2, DUSP8, LOC338651, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, FAM99A, FAM99B, KRTAP5-6, LOC402778, CTSD, SYT8, TNNI2, LSP1, MIR4298, TNNT3, MRPL23, LOC100133545

20q13.33 (61,632,196-62,539,530)x1

907.3 Kb

BHLHE23, LOC63930, NCRNA00029, LOC100144597, HAR1B , HAR1A , MIR124-3, YTHDF1, BIRC7, MIR3196, NKAIN4, FLJ16779, ARFGAP1, MIR4326, COL20A1, CHRNA4, KCNQ2 , EEF1A2, PPDPF, PTK6, SRMS, C20orf195, PRIC285, GMEB2, STMN3, RTEL1, RTEL1-TNFRSF6B, TNFRSF6B, ARFRP1, ZGPAT, LIME1, SLC2A4RG, ZBTB46, ABHD16B, TPD52L2, DNAJC5

  1. (UCSC Genome Browser, human genome build 19)