karyotype

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	Diseases	Rating	Bibliogr.
1	XYY Karyotype	100	+ +
2	Chromosome Aberrations	98	+ +
3	Sex Chromosome Aberrations	74	+ +
4	Translocation, Genetic	68	+ +
5	Abnormal Karyotype	62	+ +
6	Trisomy	60	+ +
7	Chromosome Disorders	58	+ +
8	Turner Syndrome	58	+ +
9	Aneuploidy	52	+ +
10	Klinefelter Syndrome	52	+ +
11	Chromosome Deletion	51	+ +
12	Polyploidy	40	+ +
13	Disorders of Sex Development	39	+ +
14	Gonadal Dysgenesis	38	+ +
15	Intellectual Disability	38	+ +
16	Sex Chromosome Disorders	35	+ +
17	Ring Chromosomes	35	+ +
18	Gonadal Dysgenesis, Mixed	33	+ +
19	Monosomy	32	+ +
20	Gonadal Dysgenesis, 46,XY	32	+ +
21	Down Syndrome	31	+ +
22	Chromosome Inversion	28	+ +
23	Syndrome	25	+ +
24	Gonadal Dysgenesis, 46,XX	25	+ +
25	Ovotesticular Disorders of Sex Development	24	+ +
26	Gonadoblastoma	23	+ +
27	Nondisjunction, Genetic	23	+ +
28	Leukemia, Myeloid, Acute	22	+ +
29	Fetal Growth Retardation	22	+ +
30	Isochromosomes	22	+ +
31	Abortion, Habitual	20	+ +
32	Infertility, Male	20	+ +
33	Diseases in Twins	19	+ +
34	Oligospermia	18	+ +
35	Growth Disorders	18	+ +
36	Azoospermia	18	+ +
37	Myelodysplastic Syndromes	18	+ +
38	Uniparental Disomy	18	+ +
39	Leukemia, Myeloid	18	+ +
40	Leukemia, Erythroblastic, Acute	18	+ +
41	Psychomotor Disorders	17	+ +
42	Fetal Diseases	17	+ +
43	Craniofacial Abnormalities	16	+ +
44	Dysgerminoma	16	+ +
45	Developmental Disabilities	16	+ +
46	Congenital Abnormalities	16	+ +
47	Hypospadias	15	+ +
48	Prader-Willi Syndrome	15	+ +
49	Abortion, Spontaneous	15	+ +
50	Chromosome Fragility	14	+ +
51	Chromosome Breakage	14	+ +
52	Amenorrhea	13	+ +
53	Holoprosencephaly	13	+ +
54	Chromosome Duplication	12	+ +
55	Hydatidiform Mole	12	+ +
56	Androgen-Insensitivity Syndrome	12	+ +
57	Jacobsen Distal 11q Deletion Syndrome	11	+ +
58	Microcephaly	11	+ +
59	Cryptorchidism	11	+ +
60	Noonan Syndrome	11	+ +
61	Leukemia	11	+ +
62	46, XX Disorders of Sex Development	10	+ +
63	Primary Ovarian Insufficiency	10	+ +
64	Heart Defects, Congenital	10	+ +
65	Philadelphia Chromosome	10	+ +
66	Muscle Hypotonia	10	+ +
67	Cri-du-Chat Syndrome	10	+ +
68	Precursor Cell Lymphoblastic Leukemia-Lymphoma	10	+ +
69	Facies	10	+ +
70	Leukemia, Monocytic, Acute	9	+ +
71	Leukemia, Lymphoid	9	+ +
72	46, XX Testicular Disorders of Sex Development	9	+ +
73	Anemia, Refractory, with Excess of Blasts	9	+ +
74	Leukemia, Megakaryoblastic, Acute	9	+ +
75	Hypogonadism	9	+ +
76	Coloboma	8	+ +
77	Dandy-Walker Syndrome	8	+ +
78	Cleft Palate	8	+ +
79	Hypertelorism	8	+ +
80	Anemia, Refractory	8	+ +
81	Leukemia, B-Cell	8	+ +
82	Lymphangioma, Cystic	8	+ +
83	Blast Crisis	8	+ +
84	Ovarian Neoplasms	8	+ +
85	Microphthalmos	7	+ +
86	Myeloproliferative Disorders	7	+ +
87	Sex Chromosome Disorders of Sex Development	7	+ +
88	Leukemia, Myelomonocytic, Acute	7	+ +
89	Leukemia, Prolymphocytic	7	+ +
90	Preleukemia	7	+ +
91	Hand Deformities, Congenital	7	+ +
92	Leukemia, Prolymphocytic, T-Cell	7	+ +
93	Leukemia, Promyelocytic, Acute	7	+ +
94	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	7	+ +
95	Dwarfism	7	+ +
96	Polydactyly	7	+ +
97	Urogenital Abnormalities	7	+ +
98	46, XY Disorders of Sex Development	7	+ +
99	Leukemia, Myelomonocytic, Chronic	7	+ +
100	Cell Transformation, Neoplastic	7	+ +
101	Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	7	+ +
102	Primary Myelofibrosis	6	+ +
103	Eye Abnormalities	6	+ +
104	Uterine Neoplasms	6	+ +
105	Tetrasomy	6	+ +
106	Agenesis of Corpus Callosum	6	+ +
107	Placenta Diseases	6	+ +
108	Infertility	6	+ +
109	Burkitt Lymphoma	6	+ +
110	Pigmentation Disorders	6	+ +
111	Polycythemia Vera	6	+ +
112	Genetic Predisposition to Disease	6	+ +
113	Neoplasms, Second Primary	6	+ +
114	Autistic Disorder	6	+ +
115	Retinoblastoma	6	+ +
116	Neoplasms, Experimental	6	+ +
117	Chromosomal Instability	6	+ +
118	Menopause, Premature	6	+ +
119	Beckwith-Wiedemann Syndrome	6	+ +
120	Limb Deformities, Congenital	6	+ +
121	Wilms Tumor	6	+ +
122	Anencephaly	6	+ +
123	Gynecomastia	6	+ +
124	Acute Disease	6	+ +
125	Teratoma	6	+ +
126	Infertility, Female	5	+ +
127	Hydrops Fetalis	5	+ +
128	Angelman Syndrome	5	+ +
129	Leukemia, Lymphocytic, Chronic, B-Cell	5	+ +
130	Leukemia, Biphenotypic, Acute	5	+ +
131	Skin Abnormalities	5	+ +
132	Genetic Diseases, Y-Linked	5	+ +
133	Foot Deformities, Congenital	5	+ +
134	DiGeorge Syndrome	5	+ +
135	Soft Tissue Neoplasms	5	+ +
136	Kidney Neoplasms	5	+ +
137	Cleft Lip	5	+ +
138	Micrognathism	5	+ +
139	Thrombocythemia, Essential	5	+ +
140	Oligohydramnios	5	+ +
141	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	5	+ +
142	Leukemia, Plasma Cell	5	+ +
143	Disease Progression	5	+ +
144	Polyhydramnios	5	+ +
145	Lissencephaly	4	+ +
146	Neoplasms, Adipose Tissue	4	+ +
147	Syndactyly	4	+ +
148	Craniosynostoses	4	+ +
149	Recurrence	4	+ +
150	Speech Disorders	4	+ +
151	Clubfoot	4	+ +
152	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	4	+ +
153	Lymphoma, B-Cell	4	+ +
154	Epilepsy	4	+ +
155	Puberty, Delayed	4	+ +
156	Lymphangioma	4	+ +
157	Learning Disorders	4	+ +
158	Virilism	4	+ +
159	Hypopigmentation	4	+ +
160	Maxillofacial Abnormalities	4	+ +
161	Fetal Weight	4	+ +
162	Fanconi Anemia	4	+ +
163	Musculoskeletal Abnormalities	4	+ +
164	Embryo Loss	4	+ +
165	Anophthalmos	4	+ +
166	Chondrodysplasia Punctata	4	+ +
167	Neoplasms, Multiple Primary	4	+ +
168	Eunuchism	4	+ +
169	Abnormalities, Severe Teratoid	4	+ +
170	Anus, Imperforate	4	+ +
171	Transsexualism	4	+ +
172	Frasier Syndrome	4	+ +
173	Hepatoblastoma	4	+ +
174	Testicular Neoplasms	3	+ +
175	Leukemoid Reaction	3	+ +
176	Hematologic Diseases	3	+ +
177	Hematologic Neoplasms	3	+ +
178	Leukemia, Myeloid, Accelerated Phase	3	+ +
179	Rett Syndrome	3	+ +
180	Luteoma	3	+ +
181	Eye Neoplasms	3	+ +
182	Cell Transformation, Viral	3	+ +
183	Hernia, Diaphragmatic	3	+ +
184	Abdominal Neoplasms	3	+ +
185	Lymphoma, Non-Hodgkin	3	+ +
186	Neuroblastoma	3	+ +
187	Disease Models, Animal	3	+ +
188	Neoplasms, Germ Cell and Embryonal	3	+ +
189	Nervous System Malformations	3	+ +
190	Hydrocephalus	3	+ +
191	Leukemia, Radiation-Induced	3	+ +
192	Brain Neoplasms	3	+ +
193	Child Behavior Disorders	3	+ +
194	Ectromelia	3	+ +
195	Dysostoses	3	+ +
196	Pelger-Huet Anomaly	3	+ +
197	Abortion, Missed	3	+ +
198	Goldenhar Syndrome	3	+ +
199	Spasms, Infantile	3	+ +
200	Hernia, Umbilical	3	+ +
201	Denys-Drash Syndrome	3	+ +
202	Anemia, Sideroblastic	3	+ +
203	Pregnancy Complications	3	+ +
204	Leukemia, Myeloid, Chronic-Phase	3	+ +
205	Child Development Disorders, Pervasive	3	+ +
206	Antisocial Personality Disorder	3	+ +
207	Rhabdomyosarcoma	3	+ +
208	Multiple Myeloma	3	+ +
209	Hernia, Inguinal	3	+ +
210	Osteochondrodysplasias	3	+ +
211	Leukemia-Lymphoma, Adult T-Cell	3	+ +
212	Classical Lissencephalies and Subcortical Band Heterotopias	3	+ +
213	Leukemia, Basophilic, Acute	3	+ +
214	Lipoma	3	+ +
215	Anemia, Macrocytic	3	+ +
216	Lymphoma, Large B-Cell, Diffuse	3	+ +
217	Obesity	3	+ +
218	Thrombocytosis	3	+ +
219	Wolf-Hirschhorn Syndrome	3	+ +
220	Pregnancy Complications, Neoplastic	3	+ +
221	Eosinophilia	3	+ +
222	Genetic Diseases, X-Linked	3	+ +
223	Puberty, Precocious	3	+ +
224	Mediastinal Neoplasms	3	+ +
225	Immunologic Deficiency Syndromes	3	+ +
226	Sarcoma	3	+ +
227	Language Development Disorders	2	+ +
228	Silver-Russell Syndrome	2	+ +
229	Arthrogryposis	2	+ +
230	Pancytopenia	2	+ +
231	Lung Neoplasms	2	+ +
232	Remission, Spontaneous	2	+ +
233	Mental Retardation, X-Linked	2	+ +
234	Campomelic Dysplasia	2	+ +
235	Anemia, Aplastic	2	+ +
236	Fetal Macrosomia	2	+ +
237	Nystagmus, Congenital	2	+ +
238	Incontinentia Pigmenti	2	+ +
239	Pierre Robin Syndrome	2	+ +
240	Aniridia	2	+ +
241	Bone Diseases, Developmental	2	+ +
242	Leukemic Infiltration	2	+ +
243	Fibrosarcoma	2	+ +
244	Hypothyroidism	2	+ +
245	Achondroplasia	2	+ +
246	Blepharophimosis	2	+ +
247	Seminoma	2	+ +
248	Seizures	2	+ +
249	Fragile X Syndrome	2	+ +
250	Rhabdomyosarcoma, Embryonal	2	+ +
251	Spinal Dysraphism	2	+ +
252	Neoplasms, Connective Tissue	2	+ +
253	Neural Tube Defects	2	+ +
254	Choroid Plexus Neoplasms	2	+ +
255	Ataxia Telangiectasia	2	+ +
256	Lymphoma	2	+ +
257	Muscular Dystrophies	2	+ +
258	Ependymoma	2	+ +
259	Premature Birth	2	+ +
260	Bone Neoplasms	2	+ +
261	Lymphoma, Mantle-Cell	2	+ +
262	Hodgkin Disease	2	+ +
263	Facial Asymmetry	2	+ +
264	Failure to Thrive	2	+ +
265	Mucopolysaccharidosis II	2	+ +
266	Olfaction Disorders	2	+ +
267	Williams Syndrome	2	+ +
268	Craniofacial Dysostosis	2	+ +
269	Neoplasm Metastasis	2	+ +
270	Hip Dislocation, Congenital	2	+ +
271	Birth Weight	2	+ +
272	Pleural Effusion	2	+ +
273	Germinoma	2	+ +
274	Muscle Neoplasms	2	+ +
275	Hypereosinophilic Syndrome	2	+ +
276	Adenocarcinoma	2	+ +
277	Neoplasm Recurrence, Local	2	+ +
278	Hypertrichosis	2	+ +
279	Tetralogy of Fallot	2	+ +
280	Liposarcoma, Myxoid	2	+ +
281	Carcinoma	2	+ +
282	Skin Neoplasms	2	+ +
283	Sarcoma, Synovial	2	+ +
284	Sarcoma, Myeloid	2	+ +
285	Hyperpigmentation	2	+ +
286	Synostosis	2	+ +
287	Sarcoma, Ewing	2	+ +
288	Heart Septal Defects, Atrial	2	+ +
289	Phyllodes Tumor	2	+ +
290	Acrocephalosyndactylia	2	+ +
291	Abnormalities, Drug-Induced	2	+ +
292	Breast Neoplasms	2	+ +
293	De Lange Syndrome	2	+ +
294	Hydronephrosis	2	+ +
295	Neoplasms	2	+ +
296	Tooth Abnormalities	2	+ +
297	Medulloblastoma	2	+ +
298	Hemophilia A	2	+ +
299	Anemia	2	+ +
300	Blepharoptosis	2	+ +
301	Prune Belly Syndrome	2	+ +
302	Neoplasm Regression, Spontaneous	1	+ +
303	Endometrial Neoplasms	1	+ +
304	Adenoma	1	+ +
305	Epilepsy, Tonic-Clonic	1	+ +
306	Encephalocele	1	+ +
307	Scoliosis	1	+ +
308	Endodermal Sinus Tumor	1	+ +
309	Pre-Eclampsia	1	+ +
310	Glioblastoma	1	+ +
311	Chronic Disease	1	+ +
312	Retinal Neoplasms	1	+ +
313	Dysgammaglobulinemia	1	+ +
314	Deafness	1	+ +
315	Liver Neoplasms	1	+ +
316	Nerve Sheath Neoplasms	1	+ +
317	Leukemia, T-Cell	1	+ +
318	Choriocarcinoma	1	+ +
319	Rhabdoid Tumor	1	+ +
320	Ascites	1	+ +
321	Leiomyosarcoma	1	+ +
322	Neuroectodermal Tumors, Primitive, Peripheral	1	+ +
323	Hyperplasia	1	+ +
324	Hamartoma	1	+ +
325	Cataract	1	+ +
326	Leiomyoma	1	+ +
327	Thrombocytopenia	1	+ +
328	Thoracic Neoplasms	1	+ +
329	Heart Septal Defects, Ventricular	1	+ +
330	Osteosarcoma	1	+ +
331	Melanoma	1	+ +
332	Splenomegaly	1	+ +
333	Lymphoma, T-Cell	1	+ +
334	Contracture	1	+ +
335	Short Rib-Polydactyly Syndrome	1	+ +
336	Liposarcoma	1	+ +
337	Lymphoma, Follicular	1	+ +
338	Meningioma	1	+ +
339	Carcinoma, Squamous Cell	1	+ +
340	Splenic Neoplasms	1	+ +
341	Pleural Neoplasms	1	+ +
342	Prostatic Neoplasms	1	+ +
343	Alopecia	1	+ +
344	Mesothelioma	1	+ +
345	Lymphatic Metastasis	1	+ +
346	Histiocytosis, Non-Langerhans-Cell	1	+ +
347	Choristoma	1	+ +
348	Breast Neoplasms, Male	1	+ +
349	Leukemia, Hairy Cell	1	+ +
350	Hypoplastic Left Heart Syndrome	1	+ +
351	Skin Diseases	1	+ +
352	Cysts	1	+ +
353	Nephrotic Syndrome	1	+ +
354	Atrophy	1	+ +
355	Peritoneal Neoplasms	1	+ +
356	Histiocytoma, Benign Fibrous	1	+ +
357	Edema	1	+ +
358	Urinary Bladder Neoplasms	1	+ +
359	Meningeal Neoplasms	1	+ +
360	Stomach Neoplasms	1	+ +
361	Cerebellar Neoplasms	1	+ +
362	Carcinoma, Transitional Cell	1	+ +
363	Graft vs Host Disease	1	+ +

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