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]

The phenotype of the present patient was modified by the 1.2Mb terminal deletion 20q. [spandidos-publications.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]

• Hirsutism

  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]

• Small Hand

  hands with proximal placement of the thumbs. [ncbi.nlm.nih.gov]

• Decrease in Height

  […] circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short neck Decreased length of neck 0000470 Short stature Decreased [rarediseases.info.nih.gov]

• No Speech Development

  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]

• Neonatal Seizures

  Potassium voltage-gated channel family Q member 2 ( KCNQ2 ; OMIM, 602235) exhibited haploinsufficiency phenotypes of benign familial neonatal seizures in the ClinGen Dosage Sensitivity Map. [spandidos-publications.com]

• Erythroblast

  In the DECIPHER database, the haploinsufficiency scores of the genes fibroblast growth factor receptor 3 ( FGFR3 ; OMIM, 134934), huntingtin (OMIM, 613004), macrophage erythroblast attacher (OMIM, 606801), msh homeobox 1 ( MSX1 ; OMIM, 142983) were 6.40 [spandidos-publications.com]

• 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]

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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Standard Therapies Treatment The treatment of Chromosome 4, Trisomy 4p is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

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 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]

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 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]

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]

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]

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]

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]

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]