| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Monosomy | 100 | + + | |
2 | Chromosome Deletion | 60 | + + | |
3 | Chromosome Aberrations | 21 | + + | |
4 | Chromosome Disorders | 20 | + + | |
5 | Trisomy | 16 | + + | |
6 | Abnormalities, Multiple | 15 | + + | |
7 | Intellectual Disability | 14 | + + | |
8 | Translocation, Genetic | 11 | + + | |
9 | Syndrome | 8 | + + | |
10 | Ring Chromosomes | 7 | + + | |
11 | Chromosome Inversion | 7 | + + | |
12 | Developmental Disabilities | 6 | + + | |
13 | Chromosome Breakage | 6 | + + | |
14 | Abnormal Karyotype | 6 | + + | |
15 | Aneuploidy | 5 | + + | |
16 | Retinoblastoma | 5 | + + | |
17 | DiGeorge Syndrome | 5 | + + | |
18 | Facies | 4 | + + | |
19 | Sex Chromosome Aberrations | 4 | + + | |
20 | Psychomotor Disorders | 4 | + + | |
21 | Maxillofacial Abnormalities | 4 | + + | |
22 | Cri-du-Chat Syndrome | 3 | + + | |
23 | Craniofacial Abnormalities | 3 | + + | |
24 | Growth Disorders | 3 | + + | |
25 | Microcephaly | 3 | + + | |
26 | Myelodysplastic Syndromes | 3 | + + | |
27 | Fetal Growth Retardation | 3 | + + | |
28 | Holoprosencephaly | 3 | + + | |
29 | Muscle Hypotonia | 3 | + + | |
30 | Down Syndrome | 2 | + + | |
31 | Heart Defects, Congenital | 2 | + + | |
32 | Agenesis of Corpus Callosum | 2 | + + | |
33 | Chromosome Fragility | 2 | + + | |
34 | Jacobsen Distal 11q Deletion Syndrome | 2 | + + | |
35 | Preleukemia | 2 | + + | |
36 | Philadelphia Chromosome | 2 | + + | |
37 | Dandy-Walker Syndrome | 1 | + + | |
38 | Turner Syndrome | 1 | + + | |
39 | Prader-Willi Syndrome | 1 | + + | |
40 | Immunologic Deficiency Syndromes | 1 | + + | |
41 | Chromosome Duplication | 1 | + + | |
42 | Leukemia, Myeloid | 1 | + + | |
43 | Fetal Diseases | 1 | + + | |
44 | Nondisjunction, Genetic | 1 | + + | |
45 | Myeloproliferative Disorders | 1 | + + | |
46 | Anemia, Refractory, with Excess of Blasts | 1 | + + | |
47 | Leukemia, Myelomonocytic, Chronic | 1 | + + | |
48 | Leukemia, Erythroblastic, Acute | 1 | + + | |
49 | 22q11 Deletion Syndrome | 1 | + + | |
50 | Uniparental Disomy | 1 | + + | |
51 | Congenital Abnormalities | 1 | + + | |
52 | Hypertelorism | 1 | + + | |
53 | Anemia, Refractory | 1 | + + | |
54 | Eye Abnormalities | 1 | + + | |
55 | Anemia, Aplastic | 1 | + + | |
56 | Cleft Palate | 1 | + + | |
57 | Isochromosomes | 1 | + + | |
58 | Leukemia | 1 | + + | |
59 | Angelman Syndrome | 1 | + + | |
60 | Abortion, Habitual | 1 | + + | |
61 | Sex Chromosome Disorders | 1 | + + | |
62 | Craniosynostoses | 1 | + + | |
63 | Disorders of Sex Development | 1 | + + | |