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Trisomy 12p

Duplication 12p


Presentation

  • 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]
  • Treatment is based on the signs and symptoms present in each person. Last updated: 12/16/2015[rarediseases.info.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]
Developmental Delay
  • 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]
  • 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.[canceropole-est.org]
  • Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental delay and intellectual disability. [1] Most cases are not inherited, but[rarediseases.info.nih.gov]
  • The girls were referred for dysmorphism and global developmental delay and have been followed from 10 months of age. They have different levels of mosaicism for both buccal cells and lymphocytes.[deepdyve.com]
Pleural Effusion
  • effusions in children: A prospective trial Kobr, Jiri / Pizingerova, Katerina / Sasek, Lumir / Fremuth, Jiri / Siala, Konrad / Racek, Jaroslav 2009 459 Seroepidemiological survey of cytomegalovirus infection among pregnant women in Nagasaki, Japan Tagawa[tib.eu]
Regurgitation
  • 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]
Increased Birth Weight
  • 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]
  • Abstract 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[liebertpub.com]
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]
  • 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]
  • Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies.[epilepsydiagnosis.org]
  • Almost all cases with tetrasomy 12p had coarse facial features, bitemporal alopecia, anteverted nostrils and everted lower lip, hypertelorism, epicanthus, long philtrum and hypo/hyperpigmented skin changes.[molecularcytogenetics.biomedcentral.com]
Short Neck
  • 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]
  • Individuals are noted to have a short neck. In some cases, additional physical abnormalities may also be present, such as narrowing of the larynx (laryngostenosis), which is the organ that connects the throat (pharynx) with the windpipe (trachea).[rarediseases.org]
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.[canceropole-est.org]
  • 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]
Prominent Cheeks
  • 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]
Broad Nasal Bridge
Behavior Problem
  • 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]
  • 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.[canceropole-est.org]
Apraxia
  • Thevenon J, Callier P, Andrieux J, Delobel B, David A, et al: 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. Eur J Hum Genet 21:82-88 (2013).[karger.com]
Sleep Disturbance
  • 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]
Guillain-Barré Syndrome
  • Simone, Maria Domenica / Chimenti, Sergio 2010 e164 Mycophenolate mofetil therapy in a child with Churg–Strauss syndrome Demircin, Gülay / Baysun, Şahika / Bülbül, Mehmet / Erdoğan, Özlem / Öner, Ayşe 2010 e167 Protein‐losing gastropathy in a child and GuillainBarré[tib.eu]

Workup

Staphylococcus Aureus
  • aureus Konno, Akihiro / Kanno, Masayuki / Suzuki, Emiko / Kashiwabara, Toshihiko / Ishikawa, Akira / Fujiyama, Jun‐ichi 2010 499 Sepsis‐like cerebrovascular event in a newborn with MTHFR homozygous mutation Pogliani, Laura / Penagini, Francesca / Dilillo[tib.eu]
Pleural Effusion
  • effusions in children: A prospective trial Kobr, Jiri / Pizingerova, Katerina / Sasek, Lumir / Fremuth, Jiri / Siala, Konrad / Racek, Jaroslav 2009 459 Seroepidemiological survey of cytomegalovirus infection among pregnant women in Nagasaki, Japan Tagawa[tib.eu]

Treatment

  • Treatment is based on the signs and symptoms present in each person. Last updated: 12/16/2015[rarediseases.info.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]
  • , Polyxeni / Priftis, Konstantinos N. 2009 447 Birth outcomes and risk factors in adolescent pregnancies: Results of a Taiwanese national survey Kuo, Ching‐Pyng / Lee, Shu‐Hsin / Wu, Wei‐Ya / Liao, Wen‐Chun / Lin, Shio‐Jean / Lee, Meng‐Chih 2009 453 Treatment[tib.eu]
  • 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]

Prognosis

  • 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]

Etiology

  • 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]

Pathophysiology

  • 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]

Prevention

  • 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]
  • 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]
  • 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]
  • 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]

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