Human Genetics Laboratory

Microdeletion / Microduplication
1p deletion [1p36]
Waardenburg Syndrome Type III [2q36-37]
Wolf-Hirschhorn [4p16.3]
Cri-du-Chat [5p15.2]
Sotos Syndrome (NSD1) [5q35]
Williams Syndrome [7q11.23]
CHARGE [8q12.2]
Langer Giedion [8q24]

Pallister-Killian Syndrome [12p]
Prader Willi / Angelman [15q11.2]

Rubenstein-Taybi [16q13.3]
Smith Magenis [17p11.2]
Miller Dieker [17p13.3]

Charcot-Marie-Tooth Type 1A / HNPP [17p12]

Saethre-Chotzen (TWIST gene) [17p21.1]

Duchenne / Becker Muscular Dystrophy [Xp21.2]
DiGeorge / VCFS Syndrome [22q11.3]
Steroid Sulfatase Deficiency (STS) [Xp22.3]
Kallmann Syndrome [Xp22.3]
Pelizaeus-Merzbacher (PLP1) [Xq22]

Spastic Paraplegia 2 (SPG2 / PLP1) [Xq22]

XIST, X inactivation site [Xq13]
SRY [Yp11.3]

*Constitutional microarray includes subtelomeres & all of the above except for CHARGE.

*High density BAC and Oligonucleotide microarrays include 5,000-244,000 loci