Symptoma

Trisomy 20p

Dup(20p)

The patient had a cleft palate, a feature not present in other trisomy 20p patients. A review of the reported trisomy 20p patients indicates that their varied features do no constitute a readily recognizable clinical syndrome. [ncbi.nlm.nih.gov]

  • Collapse

    At 13 months of age, radiographs showed marked generalised osteopenia with collapse of several vertebrae, particularly the 7th and 9th thoracic, platyspondyly, biconcave vertebral bodies, and coarsening of the trabecular pattern (fig 3 ). [jmg.bmj.com]

  • Sparse Hair

    Upon genetic consultation the growth parameters were noted: body weight – 2730 g, length- 51 cm and typical Down syndrome gestalt was observed including: large fontanel, sparse hair, low posterior hairline, prominent forehead, microophtalmia, flat occiput [omicsonline.org]

  • Platyspondyly

    At 13 months of age, radiographs showed marked generalised osteopenia with collapse of several vertebrae, particularly the 7th and 9th thoracic, platyspondyly, biconcave vertebral bodies, and coarsening of the trabecular pattern (fig 3 ). [jmg.bmj.com]

  • Periorbital Fullness

    We describe an 8.5-year-old boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned corners of the mouth, and micrognathia. [ncbi.nlm.nih.gov]

  • Prominent Cheeks

    The moderate to mild mental retardation and somewhate unusual features (round face, prominent cheeks and nose, short mandible) in the three siblings and two other affected relatives suggest that trisomy of the short arm of chromosome 20 may cause a distinguishable [ncbi.nlm.nih.gov]

  • Downturned Corners of the Mouth

    We describe an 8.5-year-old boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned corners of the mouth, and micrognathia. [ncbi.nlm.nih.gov]

  • Thin Lips

    lips, retrognathia and high arched palate, along with a short neck. [omicsonline.org]

  • Chordee

    He also had a glandular hypospadias, slight chordee, and an undescended right testis (orchidopexy at 7 years). He also had an umbilical hernia as an infant, glue ears treated with grommets, and astigmatism of both eyes. [jmg.bmj.com]

  • Poor Coordination

    The patient presented with dysmorphic features, mental retardation, poor coordination, cardiac malformation, kyphosis, hypospadias, cryptorchidism, and preaxial hexadactyly. No growth delay was noticed. [ncbi.nlm.nih.gov]

    Symptoms - Chromosome 20- duplication 20p The list of signs and symptoms mentioned in various sources for Chromosome 20p, partial duplication includes the 24 symptoms listed below: * Mental deficiency * Reduced muscle tone * Poor coordination * Ataxia [checkorphan.org]

    Signs and symptoms that have been reported in people with chromosome 20p duplication include intellectual disability, developmental delay, speech delay, poor coordination, dental problems, spinal bone abnormalities, distinctive facial features, and heart [rarediseases.info.nih.gov]

  • Clumsiness

    We report on a boy with speech delay, mental retardation, motor clumsiness, hyperactivity, dysmorphic facial features, brachytelephalangy and short stature. [ncbi.nlm.nih.gov]

This is one of the few cases of de novo trisomy 20p with extensive workup, characterization at molecular level and close follow-up from the neonatal period to age 30 months. [ncbi.nlm.nih.gov]

This is one of the few cases of de novo trisomy 20p with extensive workup, characterization at molecular level and close follow-up from the neonatal period to age 30months. [agris.fao.org]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations. [books.google.com]

In these cases, it is unlikely the parents would have another child with a chromosome abnormality. [1] Treatment for chromosome 20p duplications depends on the signs and symptoms present in each person. Last updated: 2/15/2018 [rarediseases.info.nih.gov]

We also compared the phenotype of our patient with that previously reported in literature, therefore contributing to better define the trisomy 20p syndrome and helping pediatricians and geneticists to better counsel families about the developmental prognosis [ncbi.nlm.nih.gov]

[…] of these children. phenotype ultrasonics electroencephalography pineal body magnetic resonance imaging chromosomes patients echocardiography boys prognosis comparative genomic hybridization electrocardiography trisomics fluorescence in situ hybridization [agris.fao.org]

Prognosis - Chromosome 20- duplication 20p Not supplied. Treatment - Chromosome 20- duplication 20p Not supplied. Resources - Chromosome 20- duplication 20p Not supplied. [checkorphan.org]

Prognosis The prognosis is variable, depending on the size and location of the duplication and on the quality and timing of treatment. Exact life expectancy is unknown, and depends on whether severe congenital anomalies are present. [orpha.net]

We called in a clergyperson for one case who candidly said he’d end the pregnancy, so bleak was the prognosis. [blogs.plos.org]

This is the second report of trisomy 20p originated "de novo" supporting a frequency rate of about the 10% for this etiological mechanism. [ncbi.nlm.nih.gov]

Synonyms dup(20p) duplication of 20p partial duplication of chromosome 20p partial duplication of the short arm of chromosome 20 partial trisomy of chromosome 20p partial trisomy of the short arm of chromosome 20 Etiology Please input defination information [pediascape.org]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]

Etiology Trisomy 20p is a chromosomal abnormality resulting from duplication of a fraction of the short arm of chromosome 20, variable in length, with no recurrent breakpoints. [orpha.net]

Summary Epidemiology Trisomy 20p is rarely reported. To date, fewer than 40 patients have been described. [orpha.net]

Messaoud T, Bel Haj Fredj S, Bibi A, Elion J, Ferec C, Fattoum S: Molecular epidemiology of cystic fibrosis in Tunisia (in French). Ann Biol Clin (Paris) 2005;63:627–630. [karger.com]

Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S (2004) Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet 5: 725-738. [omicsonline.org]

Undescended testes Causes - Chromosome 20- duplication 20p * Anteverted nostrils * Ataxia * Flat nasal bridge * Kyphoscoliosis * Large ears * Mental deficiency * Poor coordination * Reduced muscle tone * Tremor * Umbilical hernia * Widely spaced eyes Prevention [checkorphan.org]

The ultimate and penultimate act synergistically to prevent nuclear occupancy on NFATc transcription factors, known regulators of vertebrate development. [omicsonline.org]

In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 4 th Edition. Ed by Milunsky A. [mosaicism.bcchr.ca]

Risk Factors and Preventive Measures Most chromosomal disorders are random events for which there are no preventive measures. [thisability.org]

[…] provided in Tunisia and the progress made in genetic research in the country, genetic services still remain insufficient and do not cover all parts of the country.At present, genetic counseling and prenatal diagnosis seems to be the method of choice to prevent [karger.com]