Affected patients present Greek helmet face, growth and mental retardation, hypotonia, and seizures. The combination of these characteristics constitutes the phenotypic core of WHS. [moh-it.pure.elsevier.com]

We present a series of 16 patients with trisomy 12p; 6 of them are older than 10 years. Most patients were born at term with normal or above normal birth weight. [ncbi.nlm.nih.gov]

The girl also presented gastroesophageal reflux; her abdominal ultrasound was normal. [mdpi.com]

• Developmental Delay

  4p Monosomy and 12p trisomy have been discussed and redefined along with recently reviewed chromosomal syndromes. 12p Trisomy syndrome is characterized by normal or increased birth weight, developmental delay with early hypotonia, psychomotor delay, and [moh-it.pure.elsevier.com]

  His phenotype was similar to that of the "trisomy 12p syndrome", characterized by developmental delays and craniofacial abnormalities including a high forehead, a short nose with anteverted nostrils and an everted lower lip. [investigadores.uandes.cl]

  Keywords: Developmental delay Microarray analysis Mosaicism Trisomy 12p Twins Issue Date: Jul-2013 Citation: Lim, E.C.P., Ng, I.S.L., Yong, M.-H., Yon, H.-Y., Brett, M.S.Y., Tan, E.-C. (2013-07). [scholarbank.nus.edu.sg]

  Even with his developmental delays, he is making positive strives. His infectious smile brings joy to everyone around him. Tre' is a blessing! [es.gofundme.com]

• Epilepsy

  MalaCards based summary : Chromosome 12p Duplication, also known as duplication 12p, is related to epilepsy and epilepsy with myoclonic absences. [malacards.org]

  We present a clinical and molecular cytogenetic characterization of a 4-year old mentally retarded girl with macrosomy, facial dysmorphisms, and epilepsy, in whom an unbalanced t(4;12)(p16.3;p13.3) translocation was detected, giving rise to partial 4p [moh-it.pure.elsevier.com]

  CHROMOSOMAL ABNORMALITIES Although many chromosomal abnormalities may be associated with epilepsy, some are important to recognize either because they have distinct seizure and EEG features or they are frequently seen in epilepsy populations. [epilepsydiagnosis.org]

  We present a clinical and molecular cytogenetic characterization of a 4-year-old mentally retarded girl with macrosomy, facial dysmorphisms, and epilepsy, in whom an unbalanced t(4;12)(p16.3;p13.3) translocation was detected, giving rise to partial 4p [liebertpub.com]

• Dysmorphic Face

  The typical dysmorphic face is reminiscent of PKS; a flat face with full cheeks, prominent forehead with high hairline, hypertelorism, short palpebral fissures, short nose with a broad and flat nasal bridge and anteverted nares, long philtrum, thin upper [mdpi.com]

• Short Stature

  stature Decreased body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abnormality of the urinary system Urinary tract abnormalities Urinary tract abnormality Urinary tract anomalies [ more ] 0000079 Anal atresia Absent anus [rarediseases.info.nih.gov]

• Hyperpigmentation

  The clinical phenotype is characterized by a pattern of dysmorphic features, hypo- or hyperpigmentation areas of the skin, progressive coarsening of the face with advancing age and moderate to severe- profound intellectual disability accompanied with [molecularcytogenetics.biomedcentral.com]

• Low Set Ears

  ears Low set ears Lowset ears [ more ] 0000369 Proptosis Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ] 0000520 Short stature Decreased body height Small stature [ more ] 0004322 5%-29% of people have these [rarediseases.info.nih.gov]

  set ears with folded helix, prominent anthelix and deep concha, "spade" shape fingers (sharp-pointed distal phalanges) with shortness of the fifth, bilateral genu valgum, slightly increased space between first and second toes, secral dimple, generalized [pubmed.ncbi.nlm.nih.gov]

  low-set abnormal ears, pointed chin and shortened hands and feet. [epilepsydiagnosis.org]

  Alopecia/Sparse temporal hair, hypo- or hyper pigmented areas and other stigmata such as epicanthic folds and slightly low-set ears, prominent forehead, hypertelorism, up- slanting palpebral fissures, anteverted nostrils, long philtrum, everted lower [molecularcytogenetics.biomedcentral.com]

• Short Arm

  A now 19 months old girl with trisomy of the short arm of chromosome 12 associated with a partial small deletion of the short arm of the chromosome 4 is reported. [moh-it.pure.elsevier.com]

  The first patient was a child carrying a de novo inverted duplication of the short arm of chromosome 12. [investigadores.uandes.cl]

  Chromosome 12, trisomy 12p, is an extremely rare chromosomal disorder in which a portion of the short arm of the 12th chromosome (12p) appears three times (trisomy) rather than twice in cells of the body. [rarediseases.org]

• Genu Valgum

  valgum; bilateral pes planus and talus valgus; increased space between the first and second toes; generalized hypotonia; and certain dermatoglyphic characteristics. [onlinelibrary.wiley.com]

  valgum, slightly increased space between first and second toes, secral dimple, generalized hypotonia and hyporeflexia of knees and ankles, nistagmus, retarded and dysrythmic bone age, simian creases or equivalent and distal axial triradii. [pubmed.ncbi.nlm.nih.gov]

• Hypertelorism

  Affiliated tissues include skin, heart and eye, and related phenotypes are malar flattening and hypertelorism [malacards.org]

  Genetic analysis was conducted on umbilical cord blood for a fetus accompanied with tricuspid regurgitation and orbital hypertelorism from a 27-year-old gravida 4, para 1 after sonography at gestation 35 weeks. [semanticscholar.org]

  Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies. [epilepsydiagnosis.org]

  The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short fingers, single transverse crease in the right hand, and hypotonia. [ashg.org]

• Short Neck

  […] nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; “spade”-shaped fingers, the fifth being short; bilateral [onlinelibrary.wiley.com]

  neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thickened nuchal skin fold Thickened [rarediseases.info.nih.gov]

  A prominent forehead with flat faces, hypertelorism, bilateral epicanthus, low nasal root, short upturned nose with anteverted nares, large mouth, prominent protruding lower lip, bifid uvula, micrognathia, and short neck are seen. [synapse.koreamed.org]

  Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal pigmentation, macular abnormality) occur. [epilepsydiagnosis.org]

  prominent everted lower lip, small mandible and short neck. [molecularcytogenetics.biomedcentral.com]

• High Forehead

  His phenotype was similar to that of the "trisomy 12p syndrome", characterized by developmental delays and craniofacial abnormalities including a high forehead, a short nose with anteverted nostrils and an everted lower lip. [investigadores.uandes.cl]

  PALLISTER KILLIAN SYNDROME (TETRASOMY 12p) This chromosomal abnormality results in dysmorphic features that include a coarsened flat facies, high forehead, reduced scalp hair over the frontal and temporal regions, hypertelorism, a broad nasal bridge, [epilepsydiagnosis.org]

  Unlike other reports,6 full cheeks, high foreheads, and epicanthic folds were not observed from our patient and rather his face was flat. [synapse.koreamed.org]

• Broad Nasal Bridge

  […] and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; “spade”-shaped fingers [onlinelibrary.wiley.com]

  nasal bridge and other facial dysmorphism. [epilepsydiagnosis.org]

  bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal [rarediseases.info.nih.gov]

  The typical dysmorphic face is reminiscent of PKS; a flat face with full cheeks, prominent forehead with high hairline, hypertelorism, short palpebral fissures, short nose with a broad and flat nasal bridge and anteverted nares, long philtrum, thin upper [mdpi.com]

• Prominent Cheeks

  Trisomy 12p syndrome Medicine Human Genetics 2004 This patient has peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, wide, prominent lower lip, and poly [semanticscholar.org]

  Our two cases of trisomy 12p (ter→12.1) were compared with eight cases of trisomy 12p described earlier, and the following common characteristics were found: severe mental and physical retardation; flat and round, broad face with prominent cheeks; flat [onlinelibrary.wiley.com]

  TRISOMY 12p Trisomy 12p is a chromosomal abnormality that results in developmental delay, intellectual impairment and a number of dysmorphic features including turricephaly, a flattened occiput, short neck, rounded facies with prominent cheeks, high prominent [epilepsydiagnosis.org]

• Seizure

  Seizures are of early onset and seizures with focal autonomic seizures features are common (which may result in cardiac arrhythmia and apnoea). [epilepsydiagnosis.org]

  Affected patients present Greek helmet face, growth and mental retardation, hypotonia, and seizures. The combination of these characteristics constitutes the phenotypic core of WHS. [moh-it.pure.elsevier.com]

  PKS was characterized by profound psychomotor retardation, inability to sit or speak, seizures, and joint contractures. [ashg.org]

• Behavior Problem

  The second and third patients were a mother and son with a direct 12p12.3p13.1 duplication, exhibiting a milder phenotype characterized by moderate developmental delays, dysmorphic facial features, behavioral problems and obesity. [investigadores.uandes.cl]

  Six had severe behavioral problems, and seven had significant sleep disturbances. Facial features of the three adult patients were different than the younger individuals. [ncbi.nlm.nih.gov]

• Hyporeflexia

  […] folded helix, prominent anthelix and deep concha, "spade" shape fingers (sharp-pointed distal phalanges) with shortness of the fifth, bilateral genu valgum, slightly increased space between first and second toes, secral dimple, generalized hypotonia and hyporeflexia [pubmed.ncbi.nlm.nih.gov]

Treatment is based on the signs and symptoms present in each person. MalaCards based summary : Chromosome 12p Duplication, also known as duplication 12p, is related to epilepsy and epilepsy with myoclonic absences. [malacards.org]

Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. [betterhealth.vic.gov.au]

Approximately 8 to 12% of patients with CLL in the first line treatment carry del 17p.6 It is widely accepted that treatment outcomes in patients with del 17p are poor. [molecular.abbott]

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarediseases.info.nih.gov]

Standard Therapies Treatment The treatment of trisomy 5p is directed toward the specific symptoms exhibited by the individual. [rarediseases.org]

The assay may be used to dichotomize CLL (the 13q-, +12, or normal genotype group versus the 11q- or 17p- group) and may be used as an aid in determining disease prognosis in combination with additional biomarkers, morphology, and other clinical information [molecular.abbott]

But the prognosis for psycho-motor development is poor.4 Trisomy 21 was diagnosed by the initial chromosome analysis in our patient, but questions had been raised about the accuracy of the test because the appearance of the patient did not fit into Down [synapse.koreamed.org]

Karyotype assessment is important to consider in all epilepsies where the etiology is uncertain as dysmorphic features may be subtle or not apparent. Karyotype examination should be extended to 50-100 mitoses to exclude mosaicism. [epilepsydiagnosis.org]

Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome? Fetal Diagn Ther. 2013;34(3):172–5. View Article PubMed Google Scholar Kayser M, et al. Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism. [molecularcytogenetics.biomedcentral.com]

Chelly J, Khelfaoui M, Francis F, Chérif B, Bienvenu T: Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14:701-713 (2006). [karger.com]

Abdul-Rahman 1 1) Dept Preventive Medicine; 2) Dept Pediatrics, Univ of Mississippi Med Ctr, Jackson, MS. Pallister-Killian Syndrome (PKS) was first reported in 1977 with mosaicism in fibroblasts for an extra chromosome composed of 12p. [ashg.org]

Due to the unforeseen circumstances of weekly doctor appointments, medical testing and preventive measures, Tre’s doctors have requested that I care for my son full time. Doing so has resulted in me taking a leave of absence from work without pay. [es.gofundme.com]

The cause of this is unknown and prevention is not possible. The most important risk factor for trisomy disorders is maternal age. Women in their late 30s and 40s are more likely to have babies with trisomy than younger women. [betterhealth.vic.gov.au]

But while some things -- like diapers -- are covered by insurance, others -- like the special thickener the MacPhails must buy each month to prevent Ella from aspirating her food and ending up in the hospital -- are not. [stillkickin.co]

Treatment may also include measures to help prevent or aggressively treat respiratory infections. Other treatment is symptomatic and supportive. Early intervention is important to ensure that children with trisomy 5p reach their potential. [rarediseases.org]