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Trisomy 4p

Duplication 4p


Presentation

  • To the best of our knowledge, the present study was the first to report an unbalanced translocation involving chromosomes 4p and 20q.[ncbi.nlm.nih.gov]
  • Five new cases of trisomy of the short arm of chromosome No. 4 are presented. In two brothers the abnormality arose from segregation of the 4p chromosome present in the mother who is a carrier of a centric fission of one No. 4 chromosome.[ncbi.nlm.nih.gov]
  • We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother.[ncbi.nlm.nih.gov]
  • From currently reported cases, a summary is presented of the results of pregnancies of both male and female translocation carriers.[ncbi.nlm.nih.gov]
  • Abstract The clinical and cytogenetic data of a female patient with trisomy of the 4p ter: 4p 12 segment are presented. Family history showed that the mother is the bearer of a balanced translocation between chromosomes 4 and 5.[ncbi.nlm.nih.gov]
Precocious Puberty
  • Puberty 148 XLMRHypotonic Facies Syndrome 27 Pseudohypoparathyroidism 149[books.google.com]
Aspiration
  • She had recurrent lung infections, due to earlier aspiration and immune deficiency (chronic granulomatous disease).[ncbi.nlm.nih.gov]
Hoarseness
  • We describe a 3-year-old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low-set ears, dysphonic hoarse voice, hyperactivity[ncbi.nlm.nih.gov]
Hiccup
  • In addition, we review the several cases in which hiccups have been associated with seizures and how this may relate to the neural pathways involved in the pathophysiology of hiccups.[ncbi.nlm.nih.gov]
Low-Set Posteriorly Rotated Ears
  • , posteriorly rotated ears 0000368 Macrotia Large ears 0000400 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or[rarediseases.info.nih.gov]
Small Hand
Round Face
  • Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral[ncbi.nlm.nih.gov]
  • face in children * Chubby cheeks in children * Triangular face in adults * Poor dentition * Elongated chin * Clinodactyly of fifth fingers * Camptodactyly * Hypoplastic fingernails * Hypoplastic toenails * Small penis * Hypospadias * Undescended testes[checkorphan.org]
  • 0000368 Macrotia Large ears 0000400 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 Round[rarediseases.info.nih.gov]

Workup

Giardia Lamblia
  • The marked weight deficit in one of the two patients had no relationship to the chromosomal anomaly; it was determined by the association of a deficit of immunoglobulin with a Giardia Lamblia infestation.[ncbi.nlm.nih.gov]

Treatment

  • Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional.[healthetreatment.com]
  • Treatment is based on the signs and symptoms present in each person. MalaCards based summary : Chromosome 4p Duplication, also known as duplication 4p, is related to 4p16.3 microduplication syndrome and wolf-hirschhorn syndrome.[malacards.org]
  • Standard Therapies Treatment The treatment of Chromosome 4, Trisomy 4p is directed toward the specific symptoms that are apparent in each individual.[rarediseases.org]

Prognosis

  • Diagnosis - Chromosome 4- Trisomy 4p These home medical tests may be relevant to Chromosome 4, trisomy 4p: * Cold & Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests Prognosis - Chromosome 4- Trisomy 4p Not supplied.[checkorphan.org]
  • Prognosis - Chromosome 4- partial trisomy distal 4q Not supplied. Treatment - Chromosome 4- partial trisomy distal 4q Not supplied. Resources - Chromosome 4- partial trisomy distal 4q Not supplied.[checkorphan.org]
  • Prognosis 100% of AML patients with follow up data achieved a complete remission. Only 1 case of relapse is reported, 1 year after the diagnosis.[atlasgeneticsoncology.org]
  • Prognosis The prognosis for aplasia cutis congenita (ACC) is usually excellent. If the defect is small, recovery is uneventful, with gradual epithelialization and formation of a hairless, atrophic scar over several weeks.[emedicine.medscape.com]
  • Fetal ovarian cysts management and ovarian prognosis : a report of 82 cases. J. Pediatr. Surg. 43 (11), 2008, 2004-9. 2) 田中潔ほか. 出生前診断された卵巣膿胞に対する治療方針. 日本周産期・新生児医学会雑誌. 46 (4), 2010, 1208-11. 3) 左勝則ほか. 胎児卵巣嚢腫に対する胎児治療の有効性に関する検討.[molcom.jp]

Etiology

  • The etiology of this chromosomal aberration in most instances is unknown, but may occur as a result of an unbalanced translocation in one of the parents as in the case reported here.[ncbi.nlm.nih.gov]
  • The etiology of HPE is very heterogeneous; it includes non-genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent.[ncbi.nlm.nih.gov]
  • The etiology of this chromosomal aberration in most instances is unknown, but may occur as a result af an unbalanced translocation in one of the parents as in the case reported here.[link.springer.com]
  • Patients with chromosomal abnormalities account for 5.5-13% of prenatal etiologies [2], [3] and 8% of all etiologies. [4] Down's syndrome is the most common chromosomal abnormality reported in patients with IS; however, many other types of chromosomal[neurologyindia.com]

Epidemiology

  • F - 47, XYY Epidemiology: 1 / 1 000 male births.[atlasgeneticsoncology.org]
  • You can help by adding to it. ( February 2018 ) Epidemiology [ edit ] The minimum birth incidence has been calculated as 1 in 95,896. [7] History [ edit ] Wolf–Hirschhorn syndrome was first described in 1961 by Americans Herbert L.[en.wikipedia.org]
  • M AML2 - - Case 4 1997 60 F RAEB-T - - Case 5 2010 43 M AML4 yes 12 months Case 6 2013 79 M RAEB2 no 4 months Case 7 2015 65 M AML yes 7 months Table 1: Cases of i(4)(p10) reported in myeloid neoplasms (M : male; F : Female; CR : complete remission) Epidemiology[atlasgeneticsoncology.org]
  • Epidemiology Frequency Aplasia cutis congenita (ACC) is an uncommon anomaly of newborns.[emedicine.medscape.com]
  • Tetanus in villages of the Punjab : an epidemiological study. J. Indian. Med. Assoc. 37, 1961, 157-61. 2) Marshall, F. N. Tetanus of the newborn. In Advances in Pediatrics, XV. Levine SZ (ed) : Chicago.[molcom.jp]
Sex distribution
Age distribution

Pathophysiology

  • In addition, we review the several cases in which hiccups have been associated with seizures and how this may relate to the neural pathways involved in the pathophysiology of hiccups.[ncbi.nlm.nih.gov]
  • Crowley Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): Pathophysiological and genetic considerations [10.] F.[analesdepediatria.org]
  • Pathophysiology The exact pathophysiology of aplasia cutis congenita (ACC) is unclear. Proposed mechanisms include intrauterine trauma, vascular compromise, infection, and medications.[emedicine.medscape.com]

Prevention

  • Clinodactyly of fifth fingers * Enlarged tongue * Flat nasal bridge * Growth retardation * Hypoplastic nipples * Kyphoscoliosis * Obesity * Reduced muscle tone * Seizures * Short neck * Short stature * Small head * Small penis * Widely spaced nipples Prevention[checkorphan.org]
  • CrossRef Google Scholar Volume 26 , Issue 3-4 October 1977 , pp. 267-273 (a1) 1 Department of Medical Genetics , University of Rome , Italy (a2) 2 Department of Pediatrics , Catholic University ; Program of Preventive Medicine (Perinatal Preventive Medicine[cambridge.org]
  • Prevention - Chromosome 4- partial trisomy distal 4q Not supplied. Diagnosis - Chromosome 4- partial trisomy distal 4q Not supplied. Prognosis - Chromosome 4- partial trisomy distal 4q Not supplied.[checkorphan.org]
  • Treatment may also include measures to help prevent or aggressively treat respiratory complications that may be associated with the disorder. Other treatment is symptomatic and supportive.[rarediseases.org]

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