| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
18076117 |
Characterization of interstitial Xp duplications in two families by tiling path array CGH. Tzschach A, Chen W, Erdogan F, Hoeller A, Ropers HH, Castellan C, Ullmann R, Schinzel A. Am J Med Genet A. 2008;146A(2):197-203. |
| Macrocephaly | ||
| Adult Chromosome Aberrations Chromosomes, Human, X Family Gene Duplication Homo sapiens Intellectual Disability Male Microarray Analysis Middle Aged | ||
| 2 (26.3%) |
1605229 |
X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter. Cianchetti C, Muntoni F, Falchi AM, Nucaro A, Sannio-Fancello G, Cao A, Marrosu MG. Am J Med Genet. 1992;43(1-2):475-8. |
| Flat face | ||
| Child Face Homo sapiens Intellectual Disability Male Multigene Family Phenotype Telangiectasis X Chromosome | ||
| 3 (4.0%) |
8880579 |
A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities. Telvi L, Ion A, Carel JC, Desguerre I, Piraud M, Boutin AM, Feingold J, Ponsot G, Fellous M, McElreavey K. J Med Genet. 1996;33(9):767-71. |
| Hypogonadotropic hypogonadism | ||
| Genotype Homo sapiens Hypogonadism Intellectual Disability Male Male Genital Organs Phenotype Sex Chromosome Aberrations X Chromosome | ||
| 3 (4.0%) |
8591674 |
Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male. Palka G, Calabrese G, Mingarelli R, Guanciali Franchi P, Stuppia L, Morizio E, Peila R, Antonucci A. Clin Genet. 1995;48(4):213-6. |
| Azoospermia | ||
| AZF1 | ||
| Adult Fluorescent in Situ Hybridization Homo sapiens Male Mosaicism Oligospermia Polymerase Chain Reaction X Chromosome Y Chromosome |
Total: 34
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000053 | Macroorchidism | Very frequent (99-80%) |
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000303 | Mandibular prognathia | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000454 | Flared nostrils | Very frequent (99-80%) |
| HP:0000455 | Broad nasal tip | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Very frequent (99-80%) |
| HP:0000776 | Congenital diaphragmatic hernia | Very frequent (99-80%) |
| HP:0001182 | Tapered finger | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001537 | Umbilical hernia | Very frequent (99-80%) |
| HP:0001620 | High pitched voice | Very frequent (99-80%) |
| HP:0001956 | Truncal obesity | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002342 | Intellectual disability, moderate | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004691 | 2-3 toe syndactyly | Very frequent (99-80%) |
| HP:0007164 | Slowed slurred speech | Very frequent (99-80%) |
| HP:0008070 | Sparse hair | Very frequent (99-80%) |
| HP:0011343 | Moderate global developmental delay | Very frequent (99-80%) |
| HP:0200055 | Small hand | Very frequent (99-80%) |
| HP:0000147 | Polycystic ovaries | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000540 | Hypermetropia | Occasional (29-5%) |
| HP:0000739 | Anxiety | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002788 | Recurrent upper respiratory tract infections | Occasional (29-5%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
| HP:0009890 | High anterior hairline | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|