Table 1

Patients, reasons for referral, karyotypes, array CGH results, and comparison with the original results

Patient	Reason for referral	Original results	Array CGH results
del, deletion; dup, duplication
1	short stature, mental retardation, steroid sulphatase deficiency	karyotype: 46, XY, del(X)(pterp22.31)¹⁹	del 65 clones (≈6 Mb) on Xpter–Xp22.31
2	short stature, brachycephaly, frontal bossing, hypertelorism, ventricular septal defect	karyotype: 46, XY, t(X;Y)(p22.3;q11.2), del(X)(pterp22.3) (T Kleefstra, personal communication)	del 32 clones (≈2.5 Mb) on Xpter–Xp22.33
3	X linked mixed deafness, choroideremia, mental retardation	karyotype: 46, XY, del(Xq21), ≈4 Mb deletion Xq21²⁰	del 43 clones (≈3.8 Mb) on Xq21.1–Xq21.31
4	mother of patient with moderate mental retardation, hypogonadism, borderline thyroid function, behavioral problems	karyotype: 46, XX, dup(X)(q26q27) (C Gardiner, personal communication)	dup 97 clones (≈9.2 Mb) on Xq26.3–Xq27.3
5	Norrie disease	karyotype: 46, XY, 150 kb deletion Xp11.3²¹	del 2 clones (≈250 kb) in Xp11.3
6	Pelizaeus-Merzbacher disease	karyotype: 46, XY, duplication PLP1 gene (E Sistermans, personal communication)	dup 3 clones (≈680 kb) in Xq22
7	X linked mixed deafness	karyotype: 46, XY, inv(X)(q13.1q21.2), 700 kb deletion Xq21^20,^22,²³	del 2 clones (≈260 kb) in Xq13; del 4 clones (≈840 kb) in Xq21
8	X linked mixed deafness	karyotype: 46, XY, inv(X)(q21.1q21.3), 150 kb duplication Xq21.1²⁴	dup 2 clones (≈265 kb) in Xq21.1; dup 4 clones (≈240 kb) in Xq21.3
9	FG syndrome	karyotype: 46, XY, inv(X)(q11q28)²⁵	dup 2 clones (≈360 kb) in Xq11; dup 4 clones (≈230 kb) in Xq28