| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
22482972 |
Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3. Chen CP, Lin YH, Chou SY, Su YN, Chern SR, Chen YT, Town DD, Chen WL, Wang W. Taiwan J Obstet Gynecol. 2012;51(1):71-6. |
| Long philtrum Micrognathia | ||
| Adult Base Sequence Chromosomes, Human, Pair 21 Females Fetal Diseases Homo sapiens Monosomy Pregnancy Ring Chromosomes Sequence Deletion Ultrasonography | ||
| 2 (63.5%) |
7328100 |
Separating monosomy-21 from the "arthrogryposis basket". Houston CS, Chudley AE. J Can Assoc Radiol. 1981;32(4):220-3. |
| Micrognathia Slanting of the palpebral fissure | ||
| Arthrogryposis Bone and Bones Chromosome Aberrations Chromosomes, Human, 21-22 and Y Congenital Foot Deformity Differential Diagnosis Homo sapiens Infant, Newborn Syndrome | ||
| 3 (60.5%) |
511168 |
A low frequency mosaicism for monosomy 21 in a live born female. Lee M, Rose D, Lazzarini A, Rajendra BR, Sciorra LJ. Hum Genet. 1979;51(3):343-7. |
| Narrow palate Micrognathia | ||
| Chromosome Aberrations Chromosomes, Human, 21-22 and Y Females Homo sapiens Infant Lymphocyte Mosaicism Skin | ||
| 4 (59.0%) |
9370908 |
Hypogammaglobulinaemia in a patient with ring chromosome 21. Ohga S, Nakao F, Narazaki O, Fusazaki N, Aoki T, Kamesaki K, Hara T. Arch Dis Child. 1997;77(3):252-4. |
| Micrognathia Prominent nasal bridge | ||
| Agammaglobulinemia Child, Preschool Chromosomes, Human, Pair 21 Homo sapiens Male Monosomy Otitis Media Pneumonia Ring Chromosomes Seizures | ||
| 4 (59.0%) |
468232 |
A case of 21q--syndrome with normal SOD-1 activity. Yamamoto Y, Ogasawara N, Gotoh A, Komiya H, Nakai H, Kuroki Y. Hum Genet. 1979;48(3):321-7. |
| Micrognathia Preauricular pit | ||
| Chromosome Banding Chromosome Deletion Chromosomes, Human, 21-22 and Y Erythrocytes Females Homo sapiens Infant, Newborn Intellectual Disability | ||
| 6 (47.5%) |
15658619 |
De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay. Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W, Liao YW. Genet Couns. 2004;15(4):437-42. |
| Microcephaly Broad philtrum | ||
| Alleles Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 21 Congenital Heart Defects DNA, Satellite Genetic Markers Genotype Holoprosencephaly Homo sapiens Infant Intellectual Disability Male Microcephaly Monosomy | ||
| 7 (43.9%) |
17710869 |
Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient. Utine GE, Aktas D, Boduroglu K, Alikasifoglu M, Tuncbilek E. Genet Couns. 2007;18(2):171-7. |
| Macrocephaly Long face Retrognathia | ||
| Child, Preschool Chromosome Aberrations Chromosome Painting Chromosomes, Human, Pair 21 Comorbidity Craniofacial Abnormalities Facies Fluorescent in Situ Hybridization Fragile X Syndrome Homo sapiens Intellectual Disability Male Monosomy Mosaicism Phenotype | ||
| 8 (42.6%) |
29258104 |
Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Cafe-au-Lait Macules and Review of the Literature. Malinverni ACM, Yamashiro Coelho EM, Chen K, Colovati ME, Soares Pinho Cernach MC, Bragagnolo S, Melaragno MI. Cytogenet Genome Res. 2017;153(2):81-85. |
| Long philtrum Hypertonia | ||
| H3F3AP4 KAT2B | ||
| Cafe-au-Lait Spots Chromosome Deletion Chromosomes, Human, Pair 21 Developmental Disabilities Face Females Hearing Loss, Bilateral Homo sapiens Infant, Newborn Muscle Hypertonia Phenotype | ||
| 9 (39.0%) |
24458657 |
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay. Fukai R, Hiraki Y, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N. Am J Med Genet A. 2014;164A(4):1021-8. |
| Microcephaly | ||
| ITSN1 | ||
| Adaptor Proteins, Vesicular Transport Chromosome Deletion Chromosomes, Human, Pair 21 Developmental Disabilities Homo sapiens Infant Male Phenotype | ||
| 9 (39.0%) |
20420031 |
Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy. Tuysuz B, Yavuz A, Ozdil M, Caferler J, Ozon H. Genet Couns. 2010;21(1):61-7. |
| Microcephaly | ||
| Child Chromosomes, Human, Pair 21 Down Syndrome Females Homo sapiens Monosomy Mosaicism Ring Chromosomes |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 21
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001873 | Thrombocytopenia | 2 |
| HP:0001909 | Leukemia | 2 |
| HP:0000027 | Azoospermia | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000426 | Prominent nasal bridge | 1 |
| HP:0000463 | Anteverted nares | 1 |
| HP:0000647 | Sclerocornea | 1 |
| HP:0001276 | Hypertonia | 1 |
| HP:0001373 | Joint dislocation | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0002079 | Hypoplasia of the corpus callosum | 1 |
| HP:0002719 | Recurrent infections | 1 |
| HP:0002721 | Immunodeficiency | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0004937 | Pulmonary artery aneurysm | 1 |
| HP:0008846 | Severe intrauterine growth retardation | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|