| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 11 (43.9%) |
18798309 |
Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes. Kulikowski LD, Bellucco FT, Nogueira SI, Christofolini DM, Smith Mde A, de Mello CB, Brunoni D, Melaragno MI. Am J Med Genet A. 2008;146A(20):2663-7. |
| Macrocephaly Retrognathia Prominent forehead | ||
| Bacterial Artificial Chromosomes Child Child, Preschool Chromosome Aberrations Chromosome Banding Chromosome Painting Chromosomes, Human, Pair 1 Cytogenetic Analysis Homo sapiens Infant Infant, Newborn Intellectual Disability Male Syndrome Trisomy | ||
| 12 (43.3%) |
9706337 |
Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype. Van Buggenhout G, De Coen L, Fryns JP. Ann Genet. 1998;41(2):77-81. |
| Brachycephaly Narrow face Synophrys | ||
| Adult Chromosomes, Human, Pair 1 Females Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Phenotype Trisomy | ||
| 13 (39.0%) |
9138155 |
Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome. Duba HC, Erdel M, Loffler J, Bereuther L, Fischer H, Utermann B, Utermann G. J Med Genet. 1997;34(4):309-13. |
| Microcephaly | ||
| Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 1 Fluorescent in Situ Hybridization Homo sapiens Infant Male Microcephaly Syndrome Trisomy | ||
| 13 (39.0%) |
6609670 |
[De novo appearance of a partial trisomy 1q in mosaic due to a 1;9 translocation]. Gagnon JA, Richer CL, Lemieux N, Gauthier-Chouinard M. Ann Genet. 1984;27(1):33-7. |
| Trigonocephaly | ||
| Chromosomes, Human, 1-3 Chromosomes, Human, 6-12 and X Homo sapiens Infant Male Mosaicism Syndrome Trisomy | ||
| 13 (39.0%) |
3122569 |
Clinical variability of partial duplication 1q: a clinical report and literature review. Rosenthal J, Abeliovich D, Carmi R. Am J Med Genet. 1987;27(4):787-92. |
| Macrocephaly | ||
| Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 18 Duodenum Eye Abnormalities Females Homo sapiens Infant, Newborn Multigene Family Phenotype | ||
| 16 (31.0%) |
12884423 |
Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error. Zeng S, Patil SR, Yankowitz J. Am J Med Genet A. 2003;120A(4):464-9. |
| Syndactyly | ||
| Adult Chromosomes, Human, Pair 1 Chromosomes, Human, Y Diseases in Twins Fatal Outcome Females Fertilization in Vitro Homo sapiens Infant, Newborn Male Mosaicism Pregnancy Trisomy Ultrasonography, Prenatal | ||
| 17 (30.8%) |
9600731 |
Partial trisomy 1q with growth hormone deficiency and normal intelligence. Schorry EK, Dietrich KN, Saal HM, Blough RI, Dey S, Chernausek S, Milatovich-Cherry A. Am J Med Genet. 1998;77(4):257-60. |
| Microphthalmia Narrow palpebral fissure | ||
| GH1 | ||
| Child, Preschool Chromosomes, Human, Pair 1 Females Homo sapiens Human Growth Hormone Infant Intelligence Trisomy | ||
| 18 (27.8%) |
14708105 |
A unique patient with an Ullrich-Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q. Dawson AJ, Wickstrom DE, Riordan D, Cardwell S, Casey R, Baldry S, Brown C. Am J Med Genet A. 2004;124A(3):303-6. |
| Narrow palate | ||
| AR XIST | ||
| Child Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 1 Chromosomes, Human, X Females Homo sapiens Mosaicism Ring Chromosomes Turner Syndrome | ||
| 19 (26.3%) |
19119457 (2610647) |
Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization. Shin YB, Nam SO, Seo EJ, Kim HH, Chang CL, Lee EY, Son HC, Hwang SH. J Korean Med Sci. 2008;23(6):1097-101. |
| Triangular face | ||
| Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 11 Fluorescent in Situ Hybridization Homo sapiens Infant Male Oligonucleotide Array Sequence Analysis Phenotype Trisomy | ||
| 19 (26.3%) |
11755100 |
Further clinical delineation in trisomy 1q32 syndrome. Nuno-Arana I, Gonzalez-Garcia JR, Garcia-Cruz D. Ann Genet. 2001;44(4):175-7. |
| Prominent forehead | ||
| Chromosome Deletion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 18 Congenital Heart Defects Craniofacial Abnormalities Fatal Outcome Fingers Homo sapiens Infant, Newborn Male Skin Abnormalities Syndrome Trisomy |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000445 | Wide nose | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0000003 | Multicystic kidney dysplasia | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000308 | Microretrognathia | Frequent (79-30%) |
| HP:0000476 | Cystic hygroma | Frequent (79-30%) |
| HP:0000528 | Anophthalmia | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0001833 | Long foot | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0010880 | Increased nuchal translucency | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000046 | Scrotal hypoplasia | Occasional (29-5%) |
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000356 | Abnormality of the outer ear | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000601 | Hypotelorism | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0001177 | Preaxial hand polydactyly | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0001789 | Hydrops fetalis | Occasional (29-5%) |
| HP:0001800 | Hypoplastic toenails | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0006610 | Wide intermamillary distance | Occasional (29-5%) |
| HP:0008386 | Aplasia/Hypoplasia of the nails | Occasional (29-5%) |
| HP:0008676 | Congenital megaureter | Occasional (29-5%) |
| HP:0010306 | Short thorax | Occasional (29-5%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001909 | Leukemia | 4 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000879 | Short sternum | 1 |
| HP:0001371 | Flexion contracture | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0010557 | Overlapping fingers | 1 |
| HP:0011974 | Myelofibrosis | 1 |
| HP:0025318 | Ovarian carcinoma | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|