Chromosome

Locus / Loci

Related Syndrome

1

1p36/1ptel/1q25

1p36 Deletion Syndrome

4

4p16.1 / 4p11-q11

Wolf-Hirschhorn Syndrome

5

5q31 / 5p15.2

Cri du Chat

5

5q35

Sotos Syndrome

7

7q11.23 / 7q31

Williams Syndrome

10

10q23 / 10p11.1-q11.1

PTEN

13

13q14

Retinoblastoma region (~10% are deletions)

13

13q14

Trisomy 13

15

15q11-13 / 15q22 / 15p11.2

Prader-Willi / Angelman Syndrome

17

17p11.2 / 17q21

Smith-Magenis

17

17p13.3 / 17q21.1

Miller-Dieker

18

18p11.1q11.1

Trisomy 18

21

21q22.13-q22.2

Trisomy 21

22

22q11.2 / 22q13

VCF / DiGeorge Region

X

Xp22.3 / Xp11.1-q11.1

X-linked Ichthyosis / Steroid Sulfatase Deficiency

X

Xp22.3 / Xp11.1-q11.1

Kallman Syndrome

X/Y

Yp11.3 / Xp11.1q11.1

Sex determination / Ambiguous genitalia

X/Y (Centromeres)

Xp11.1q11.1 / Yp11.1q11.1

Sex determination / Ambiguous genitalia

Prenatal

13, 18, 21, X, Y

Prenatal FISH for trisomy and sex chromosome anomalies

Subtelomeres

All chromosome subtelomeres

Subtelomere analysis