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Table 1 Karyotypes in patients found to have abnormalities on G-banded chromosome analysis

From: Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

Patient Age Karyotype MLPA MD MLPA ST
1 5 46,X,der(Y)inv(Y)(p11q11.2)Yqs pat.ish der(Y)(DXYS130 st,DXYS224 st) NAD NAD
2 6 46,XX,del(12)(q21.1q21.2) NAD NAD
3 5 46,XX,der(10)t(7;10)(q36.1;q26.3).ish der(10)(D10S2490-,D7S427+) NAD del 10q
4 1 46,XX,der(20)dup(20)(p13p11.2)del(20)(p13)dn.ish der(20)(D20S1156-,wcp20+,pcp20p+, pcp20q+,RH44234+) Alagille duplication del 20p
5 5 46,XX,inv(18)(q12.2q23) NAD NAD
6 1 46,XY,?v21pss NAD dup XYq
7 1 46,XY,del(7)(p1?4.2p1?5.1) NAD NAD
8 3 46,XY,inv(1)(p36.22p36.33)mat.ish inv(1)(CEB108 st,D1Z2 mv) NAD NAD
9 1 47,XXY NAD XXY
10 2 48,XXYY NAD dup XYp, dup XYq
  1. NAD – No abnormality detected