abnormal karyotype; Karyotype, Abnormal

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	Diseases	Rating	Bibliogr.
1	Abnormal Karyotype	100	+ +
2	Chromosome Aberrations	93	+ +
3	Translocation, Genetic	49	+ +
4	Chromosome Disorders	49	+ +
5	Trisomy	39	+ +
6	Aneuploidy	35	+ +
7	XYY Karyotype	33	+ +
8	Chromosome Deletion	30	+ +
9	Monosomy	26	+ +
10	Sex Chromosome Aberrations	25	+ +
11	Leukemia, Myeloid, Acute	22	+ +
12	Turner Syndrome	19	+ +
13	Leukemia, Lymphoid	17	+ +
14	Leukemia	17	+ +
15	Klinefelter Syndrome	17	+ +
16	Polyploidy	13	+ +
17	Disorders of Sex Development	13	+ +
18	Gonadal Dysgenesis	13	+ +
19	Intellectual Disability	12	+ +
20	Sex Chromosome Disorders	11	+ +
21	Ring Chromosomes	11	+ +
22	Abnormalities, Multiple	11	+ +
23	Gonadal Dysgenesis, Mixed	11	+ +
24	Gonadal Dysgenesis, 46,XY	10	+ +
25	Down Syndrome	10	+ +
26	Chromosome Inversion	9	+ +
27	Syndrome	8	+ +
28	Gonadal Dysgenesis, 46,XX	8	+ +
29	Ovotesticular Disorders of Sex Development	8	+ +
30	Gonadoblastoma	8	+ +
31	Nondisjunction, Genetic	7	+ +
32	Fetal Growth Retardation	7	+ +
33	Isochromosomes	7	+ +
34	Abortion, Habitual	7	+ +
35	Infertility, Male	7	+ +
36	Diseases in Twins	6	+ +
37	Oligospermia	6	+ +
38	Growth Disorders	6	+ +
39	Azoospermia	6	+ +
40	Myelodysplastic Syndromes	6	+ +
41	Uniparental Disomy	6	+ +
42	Leukemia, Myeloid	6	+ +
43	Leukemia, Erythroblastic, Acute	6	+ +
44	Psychomotor Disorders	5	+ +
45	Fetal Diseases	5	+ +
46	Craniofacial Abnormalities	5	+ +
47	Dysgerminoma	5	+ +
48	Developmental Disabilities	5	+ +
49	Congenital Abnormalities	5	+ +
50	Hypospadias	5	+ +
51	Prader-Willi Syndrome	5	+ +
52	Abortion, Spontaneous	5	+ +
53	Chromosome Fragility	4	+ +
54	Chromosome Breakage	4	+ +
55	Amenorrhea	4	+ +
56	Holoprosencephaly	4	+ +
57	Chromosome Duplication	4	+ +
58	Hydatidiform Mole	4	+ +
59	Androgen-Insensitivity Syndrome	4	+ +
60	Jacobsen Distal 11q Deletion Syndrome	3	+ +
61	Microcephaly	3	+ +
62	Cryptorchidism	3	+ +
63	Noonan Syndrome	3	+ +
64	46, XX Disorders of Sex Development	3	+ +
65	Primary Ovarian Insufficiency	3	+ +
66	Heart Defects, Congenital	3	+ +
67	Philadelphia Chromosome	3	+ +
68	Muscle Hypotonia	3	+ +
69	Cri-du-Chat Syndrome	3	+ +
70	Precursor Cell Lymphoblastic Leukemia-Lymphoma	3	+ +
71	Facies	3	+ +
72	Leukemia, Monocytic, Acute	3	+ +
73	46, XX Testicular Disorders of Sex Development	3	+ +
74	Anemia, Refractory, with Excess of Blasts	3	+ +
75	Leukemia, Megakaryoblastic, Acute	3	+ +
76	Hypogonadism	3	+ +
77	Coloboma	2	+ +
78	Dandy-Walker Syndrome	2	+ +
79	Cleft Palate	2	+ +
80	Hypertelorism	2	+ +
81	Anemia, Refractory	2	+ +
82	Leukemia, B-Cell	2	+ +
83	Lymphangioma, Cystic	2	+ +
84	Blast Crisis	2	+ +
85	Ovarian Neoplasms	2	+ +
86	Microphthalmos	2	+ +
87	Myeloproliferative Disorders	2	+ +
88	Sex Chromosome Disorders of Sex Development	2	+ +
89	Leukemia, Myelomonocytic, Acute	2	+ +
90	Leukemia, Prolymphocytic	2	+ +
91	Preleukemia	2	+ +
92	Hand Deformities, Congenital	2	+ +
93	Leukemia, Prolymphocytic, T-Cell	2	+ +
94	Leukemia, Promyelocytic, Acute	2	+ +
95	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	2	+ +
96	Dwarfism	2	+ +
97	Polydactyly	2	+ +
98	Urogenital Abnormalities	2	+ +
99	46, XY Disorders of Sex Development	2	+ +
100	Leukemia, Myelomonocytic, Chronic	2	+ +
101	Cell Transformation, Neoplastic	2	+ +
102	Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	2	+ +
103	Primary Myelofibrosis	2	+ +
104	Eye Abnormalities	2	+ +
105	Uterine Neoplasms	2	+ +
106	Tetrasomy	2	+ +
107	Agenesis of Corpus Callosum	2	+ +
108	Placenta Diseases	2	+ +
109	Infertility	2	+ +
110	Burkitt Lymphoma	2	+ +
111	Pigmentation Disorders	2	+ +
112	Polycythemia Vera	2	+ +
113	Genetic Predisposition to Disease	2	+ +
114	Neoplasms, Second Primary	2	+ +
115	Autistic Disorder	2	+ +
116	Retinoblastoma	2	+ +
117	Neoplasms, Experimental	2	+ +
118	Chromosomal Instability	2	+ +
119	Menopause, Premature	2	+ +
120	Beckwith-Wiedemann Syndrome	2	+ +
121	Limb Deformities, Congenital	2	+ +
122	Wilms Tumor	2	+ +
123	Anencephaly	2	+ +
124	Gynecomastia	2	+ +
125	Acute Disease	2	+ +
126	Teratoma	2	+ +
127	Infertility, Female	1	+ +
128	Hydrops Fetalis	1	+ +
129	Angelman Syndrome	1	+ +
130	Leukemia, Lymphocytic, Chronic, B-Cell	1	+ +
131	Leukemia, Biphenotypic, Acute	1	+ +
132	Skin Abnormalities	1	+ +
133	Genetic Diseases, Y-Linked	1	+ +
134	Foot Deformities, Congenital	1	+ +
135	DiGeorge Syndrome	1	+ +
136	Soft Tissue Neoplasms	1	+ +
137	Kidney Neoplasms	1	+ +
138	Cleft Lip	1	+ +
139	Micrognathism	1	+ +
140	Thrombocythemia, Essential	1	+ +
141	Oligohydramnios	1	+ +
142	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	1	+ +
143	Leukemia, Plasma Cell	1	+ +
144	Disease Progression	1	+ +
145	Polyhydramnios	1	+ +
146	Lissencephaly	1	+ +
147	Neoplasms, Adipose Tissue	1	+ +
148	Syndactyly	1	+ +
149	Craniosynostoses	1	+ +
150	Recurrence	1	+ +
151	Speech Disorders	1	+ +
152	Clubfoot	1	+ +
153	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	1	+ +
154	Lymphoma, B-Cell	1	+ +
155	Epilepsy	1	+ +
156	Puberty, Delayed	1	+ +
157	Lymphangioma	1	+ +
158	Learning Disorders	1	+ +
159	Virilism	1	+ +
160	Hypopigmentation	1	+ +
161	Maxillofacial Abnormalities	1	+ +
162	Fetal Weight	1	+ +
163	Fanconi Anemia	1	+ +
164	Musculoskeletal Abnormalities	1	+ +
165	Embryo Loss	1	+ +
166	Anophthalmos	1	+ +
167	Chondrodysplasia Punctata	1	+ +
168	Neoplasms, Multiple Primary	1	+ +
169	Eunuchism	1	+ +
170	Abnormalities, Severe Teratoid	1	+ +
171	Anus, Imperforate	1	+ +
172	Transsexualism	1	+ +
173	Frasier Syndrome	1	+ +
174	Hepatoblastoma	1	+ +
175	Testicular Neoplasms	1	+ +
176	Leukemoid Reaction	1	+ +
177	Hematologic Diseases	1	+ +
178	Hematologic Neoplasms	1	+ +
179	Leukemia, Myeloid, Accelerated Phase	1	+ +
180	Rett Syndrome	1	+ +
181	Luteoma	1	+ +
182	Eye Neoplasms	1	+ +
183	Cell Transformation, Viral	1	+ +
184	Hernia, Diaphragmatic	1	+ +
185	Abdominal Neoplasms	1	+ +
186	Lymphoma, Non-Hodgkin	1	+ +
187	Neuroblastoma	1	+ +
188	Disease Models, Animal	1	+ +
189	Neoplasms, Germ Cell and Embryonal	1	+ +
190	Nervous System Malformations	1	+ +
191	Hydrocephalus	1	+ +
192	Leukemia, Radiation-Induced	1	+ +
193	Brain Neoplasms	1	+ +
194	Child Behavior Disorders	1	+ +
195	Ectromelia	1	+ +
196	Dysostoses	1	+ +
197	Pelger-Huet Anomaly	1	+ +
198	Abortion, Missed	1	+ +
199	Goldenhar Syndrome	1	+ +
200	Spasms, Infantile	1	+ +
201	Hernia, Umbilical	1	+ +
202	Denys-Drash Syndrome	1	+ +
203	Anemia, Sideroblastic	1	+ +
204	Pregnancy Complications	1	+ +
205	Leukemia, Myeloid, Chronic-Phase	1	+ +
206	Child Development Disorders, Pervasive	1	+ +
207	Antisocial Personality Disorder	1	+ +
208	Rhabdomyosarcoma	1	+ +
209	Multiple Myeloma	1	+ +
210	Hernia, Inguinal	1	+ +
211	Osteochondrodysplasias	1	+ +
212	Leukemia-Lymphoma, Adult T-Cell	1	+ +
213	Classical Lissencephalies and Subcortical Band Heterotopias	1	+ +
214	Leukemia, Basophilic, Acute	1	+ +
215	Lipoma	1	+ +
216	Anemia, Macrocytic	1	+ +
217	Lymphoma, Large B-Cell, Diffuse	1	+ +
218	Obesity	1	+ +
219	Thrombocytosis	1	+ +
220	Wolf-Hirschhorn Syndrome	1	+ +
221	Pregnancy Complications, Neoplastic	1	+ +
222	Eosinophilia	1	+ +
223	Genetic Diseases, X-Linked	1	+ +
224	Puberty, Precocious	1	+ +
225	Mediastinal Neoplasms	1	+ +
226	Immunologic Deficiency Syndromes	1	+ +
227	Sarcoma	1	+ +
228	Language Development Disorders	1	+ +
229	Silver-Russell Syndrome	1	+ +
230	Arthrogryposis	1	+ +
231	Pancytopenia	1	+ +
232	Lung Neoplasms	1	+ +
233	Remission, Spontaneous	1	+ +

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