chromosomal disease +

chromosomal duplication syndrome +
Patau syndrome
Prader-Willi syndrome

3p deletion syndrome
46,XY sex reversal 10
46,XY sex reversal 4
alpha thalassemia-intellectual disability syndrome type 1
AMME complex
Axenfeld-Rieger syndrome type 2
chromosome 10q23 deletion syndrome
chromosome 13q14 deletion syndrome
chromosome 14q11-q22 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 220-kb
chromosome 16p11.2 deletion syndrome, 593-kb
chromosome 16p12.1 deletion syndrome
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 16q22 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q41-q42 deletion syndrome
chromosome 22q11.2 deletion syndrome, distal
chromosome 2p12-p11.2 deletion syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 2q37 deletion syndrome
chromosome 3q13.31 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 4q21 deletion syndrome
chromosome 5q12 deletion syndrome
chromosome 5q deletion syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 6q11-q14 deletion syndrome
chromosome 6q24-q25 deletion syndrome
chromosome 8q21.11 deletion syndrome
chromosome 9p deletion syndrome
chromosome Xp21 deletion syndrome
Cri-Du-Chat syndrome
DiGeorge syndrome
distal 10q deletion syndrome
hereditary nonpolyposis colorectal cancer type 8
hypoparathyroidism-deafness-renal disease syndrome
hypotonia-cystinuria syndrome
Jacobsen Syndrome
Kleefstra syndrome 1
NFIA-related disorder
Phelan-McDermid syndrome
posterior amorphous corneal dystrophy
Potocki-Shaffer syndrome
Rubinstein-Taybi syndrome
SATB2-associated syndrome
Smith-Magenis syndrome
thrombocytopenia-absent radius syndrome
velocardiofacial syndrome
WAGR syndrome
Williams-Beuren syndrome
Wolf-Hirschhorn syndrome
Y-linked spermatogenic failure 1