| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
19471777 |
[Anesthesia in child with Pallister-Killian syndrome: case report.]. Cruz JR, Videira RL. Rev Bras Anestesiol. 2004;54(5):677-80. |
| Micrognathia | ||
| 2 (50.0%) |
19215056 |
Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p. Vogel I, Lyngbye T, Nielsen A, Pedersen S, Hertz JM. Am J Med Genet A. 2009;149A(3):510-4. |
| Frontal bossing Polydactyly | ||
| Amniocentesis Bacterial Artificial Chromosomes Chromosome Aberrations Chromosomes, Human, Pair 12 Cytogenetic Analysis DNA Developmental Disabilities Females Fluorescent in Situ Hybridization Gene Dosage Homo sapiens Infant Mosaicism Muscular Disorders, Atrophic Oligonucleotide Array Sequence Analysis | ||
| 3 (49.1%) |
7845885 |
Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase fish. Wilson RD, Harrison K, Clarke LA, Yong SL. Prenat Diagn. 1994;14(9):787-92. |
| Polyhydramnios Short femur | ||
| Adult Amniocentesis Amniotic Fluid Aneuploidy Chromosome Aberrations Chromosomes, Human, Pair 12 Females Fetal Diseases Fluorescent in Situ Hybridization Homo sapiens Interphase Mosaicism Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 3 (49.1%) |
1513756 |
A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome) Tejada MI, Uribarren A, Briones P, Vilaseca MA. Prenat Diagn. 1992;12(6):529-34. |
| Short femur | ||
| LDHB | ||
| Adult Amniocentesis Chromosome Aberrations Chromosomes, Human, Pair 12 Females Homo sapiens Mosaicism Polyhydramnios Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 5 (46.6%) |
7794559 |
The Pallister-Killian syndrome in an African individual. Woodman BF, Jordan MA, Moller LI, Cartwright JD, De Ravel TJ. Genet Couns. 1995;6(1):33-6. |
| Short hallux | ||
| Africa, Southern Aneuploidy Chromosome Aberrations Chromosomes, Human, Pair 12 Homo sapiens Infant Intellectual Disability Isochromosomes Male Mosaicism Syndrome | ||
| 6 (45.7%) |
29779390 |
[Prenatally diagnosed case of Pallister‒Killian syndrome]. Tidrenczel Z, P Tardy E, Sarkadi E, Simon J, Beke A, Demeter J. Orv Hetil. 2018;159(21):847-852. |
| Seizure Micromelia | ||
| Adult Chromosomes, Human, Pair 12 Females Fluorescent in Situ Hybridization Homo sapiens Pregnancy Pregnancy Trimester, Second | ||
| 6 (45.7%) |
28040135 |
Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis. Libotte F, Bizzoco D, Gabrielli I, Mesoraca A, Cignini P, Vitale SG, Marilli I, Gulino FA, Rapisarda AM, Giorlandino C. Taiwan J Obstet Gynecol. 2016;55(6):863-866. |
| Ventriculomegaly Micromelia | ||
| Amniocentesis Chorionic Villi Sampling Chromosomes, Human, Pair 12 Females Fluorescent in Situ Hybridization Gestational Age Homo sapiens Mosaicism Pregnancy Tetrasomy Ultrasonography, Prenatal Young Adult | ||
| 6 (45.7%) |
20812182 |
First trimester diagnosis of Pallister-Killian syndrome in a fetus with suggestive abnormalities. Mourali M, El Fekih C, Dimassi K, Fatnassi A, Zineb NB, Oueslati B. Tunis Med. 2010;88(9):666-9. |
| Overgrowth Micromelia | ||
| Adult Chromosomes, Human, Pair 12 Craniofacial Abnormalities Diaphragmatic Hernia Females Homo sapiens Pregnancy Pregnancy Trimester, First | ||
| 6 (45.7%) |
19718583 |
Contribution of 3D ultrasound and fetal face studies to the prenatal diagnosis of Pallister-Killian syndrome. Sananes N, Guigue V, Vayssiere C, Kohler M, Girard-Lemaire F, Flori E, Carelle-Calmels N, Boehm N, Samama B, Doray B, Favre R. J Matern Fetal Neonatal Med. 2010;23(6):558-62. |
| Polyhydramnios Micromelia | ||
| Adult Chromosomes, Human, Pair 12 Face Females Fetus Homo sapiens Imaging, Three-Dimensional Intellectual Disability Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 6 (45.7%) |
18293669 |
[Pallister-Killian syndrome. Case report]. Ramirez Fernandez MA, Garcia Cavazos R, Sanchez Martinez HF. Ginecol Obstet Mex. 2007;75(7):412-8. |
| Polyhydramnios Micromelia | ||
| Adult Chromosome Aberrations Face Females Homo sapiens Intellectual Disability Syndrome |
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000215 | Thick upper lip vermilion | Very frequent (99-80%) |
| HP:0000219 | Thin upper lip vermilion | Very frequent (99-80%) |
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0000535 | Sparse and thin eyebrow | Very frequent (99-80%) |
| HP:0000684 | Delayed eruption of teeth | Very frequent (99-80%) |
| HP:0000966 | Hypohidrosis | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001315 | Reduced tendon reflexes | Very frequent (99-80%) |
| HP:0002714 | Downturned corners of mouth | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004326 | Cachexia | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0008070 | Sparse hair | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0011220 | Prominent forehead | Frequent (79-30%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0100736 | Abnormal soft palate morphology | Occasional (29-5%) |
Total: 17
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100790 | Hernia | 11 |
| HP:0001250 | Seizures | 4 |
| HP:0001249 | Intellectual disability | 3 |
| HP:0010880 | Increased nuchal translucency | 2 |
| HP:0011097 | Epileptic spasms | 2 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001548 | Overgrowth | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002983 | Micromelia | 1 |
| HP:0003097 | Short femur | 1 |
| HP:0004383 | Hypoplastic left heart | 1 |
| HP:0008070 | Sparse hair | 1 |
| HP:0010816 | Epidermal nevus | 1 |
| HP:0012805 | Iris transillumination defect | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|