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]

[…] if the condition was present at the time of inpatient admission. [icd.codes]

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

• Epilepsy

  Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new epilepsy genes. [ncbi.nlm.nih.gov]

  Neurol India 2014;62:189-91 » Introduction Infantile spasms (IS) is an epilepsy syndrome characterized by epileptic spasms, mental regression, and hypsarrhythmia on electroencephalography (EEG) and is an age-specific epilepsy syndrome occurring primary [neurologyindia.com]

  PubMed/NCBI 12 Mefford HC, Cook J and Gospe SM Jr: Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. Am J Med Genet A. 158A:1–3195. 2012. [spandidos-publications.com]

  How to address the commonly asked question "do you just have seizures or is it epilepsy? Creamy Egg Noodles, Cabbage & Smoked Sausage My lightened-up creamy egg noodles and sausage are big on flavor but not on fat. [pinterest.co.uk]

  Partial monosomy Xq(Xq23-qter) and trisomy 4p(4p15.33-pter) in a woman with intractable focal epilepsy, borderline intellectual functioning and dysmorphic features. Brain Dev. 2008; 30(6): 425-429. [degruyter.com]

• Infertility

  It is in fact an autosomal dominant trait. cardiac malformations, mild mental retardation, infertility or fertility. a gene maps in 12q24. B - TETRAPLOIDY 4N = 92 chromosomes. Found in 5 % of miscarriages. [atlasgeneticsoncology.org]

  Girls with Turner syndrome are usually shorter than average, have delayed or absent puberty and may be infertile. Most have normal intelligence, but some have learning difficulties. [sequenom.com]

  Since I had a previous history of miscarriage and infertility, the doctor had scheduled me for yet another exam and ultrasound two weeks after the one confirming cardiac activity. [myjourneytofamily.wordpress.com]

  J Hum Genet 2011, 56: 516–523. 10.1038/jhg.2011.51 View Article PubMed Google Scholar Gabriel-Robez O, Ratomponirina C, Rumpler Y, Le Marec B, Luciani JM, Guichaoua MR: Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric [molecularcytogenetics.biomedcentral.com]

  References 1 De Braekeleer M and Dao TN: Cytogenetic studies in male infertility: A review. Hum Reprod. 6:245–250. 1991. [spandidos-publications.com]

• Short Stature

  […] neck * Short stature * Small head * Small penis * Widely spaced nipples Prevention - Chromosome 4- Trisomy 4p Not supplied. [checkorphan.org]

  […] neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Smooth philtrum 0000319 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Wide intermamillary [rarediseases.info.nih.gov]

  Some features of Jacobsen syndrome include short stature, intellectual disability and distinctive facial features. Many can experience bleeding disorders and malformations of the heart as well. [sequenom.com]

  She was developmentally delayed, of short stature and low weight (126 cm in height and 23 kg in weight, both of which fell below the third percentile), and was diagnosed as having scoliosis (Fig. 1A ). [healio.com]

  Although head circumference was reduced in all seven cases, height was variable ranging from normal (5/7) to short stature (2/7) (Table 2 ). [bmcmedgenet.biomedcentral.com]

• Dentist

  The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies. [books.google.ro]

• Weakness

  […] 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 weak [rarediseases.info.nih.gov]

  Cardio facial syndrome : congenital heart disease and facial weakness, a hitherto unrecognized association. Arch. Dis. Child. 44, 1969, 69-75. 4) Monreal, F. J. Asymmetric crying facies : An alternative interpretation. [molcom.jp]

• Respiratory Distress

  Systemic air embolism in the respiratory distress syndrome of the newborn. Pediatr. Radiol. 8, 1979, 139. 3) 小濱守安, 安次嶺馨, 我那覇仁, 中村豊一, 吉村博. 15年間の新生児エアリーク症例の臨床的検討. 日本未熟児新生児学会雑誌. 9 (2), 1977, 45-50. P.518 掲載の参考文献 2) 長谷川久弥. 新生児の気道病変. [molcom.jp]

• Diarrhea

  Pagina 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. ‎ Pagina 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ [books.google.ro]

• Prognathism

  This paper describes a 2 year-old female child with the characteristic findings of frontal bossing, deep-set eyes, broad nasal bridge giving the appearance of hypertelorism, wide nares, midfacial hypoplasia, large dysplastic ears, prognathism and various [ncbi.nlm.nih.gov]

  Clinics: the face reminds of the one found in trisomy 8. macrocephaly. high forehead. midface hypoplasia. large nasal root. prognathism. thick lips. high palate. large, unfolded ears. macroorchidy. fertility is often normal. III. [atlasgeneticsoncology.org]

• Macrotia

  […] nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Low anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low-set, posteriorly rotated ears 0000368 Macrotia [rarediseases.info.nih.gov]

• Dermatitis

  Pagina 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. ‎ Pagina 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ [books.google.ro]

  Dermat Ztschr. 8, 1901, 173. 2) Danlos, H. Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux, Bull. Soc. Fr. Dermat. Syph. 19, 1908, 70. 3) 佐野榮春, 新海浤. "Ehlers-Danlos症候群". 代謝・内分泌異常症 I. 山村雄一ほか編. [molcom.jp]

• Hypertelorism

  Affiliated tissues include heart, and related phenotypes are hypertelorism and short neck [malacards.org]

  This paper describes a 2 year-old female child with the characteristic findings of frontal bossing, deep-set eyes, broad nasal bridge giving the appearance of hypertelorism, wide nares, midfacial hypoplasia, large dysplastic ears, prognathism and various [ncbi.nlm.nih.gov]

  […] from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism [orpha.net]

• Frontal Bossing

  This paper describes a 2 year-old female child with the characteristic findings of frontal bossing, deep-set eyes, broad nasal bridge giving the appearance of hypertelorism, wide nares, midfacial hypoplasia, large dysplastic ears, prognathism and various [ncbi.nlm.nih.gov]

  Hallerman-Streiff Syndrome (Frontal bossing, micrognathia, small beaked nose ,dental anomalies, alopecia, microphthalmia, cataracts. [fetalultrasound.com]

• Broad Nasal Bridge

  This paper describes a 2 year-old female child with the characteristic findings of frontal bossing, deep-set eyes, broad nasal bridge giving the appearance of hypertelorism, wide nares, midfacial hypoplasia, large dysplastic ears, prognathism and various [ncbi.nlm.nih.gov]

• Denial

  But doing so would prove quite difficult as our family practitioner (who was also our labor and delivery doctor) was in complete denial, reassuring me my baby was fine. Yet, my motherly instinct told me different. [livingthediagnosis.com]

• Aggressive Behavior

  She displayed aggressive behavior and had mild intellectual impairment. Neurological examination revealed absent knee and ankle jerks and dysarthria. No history of seizures was reported, and distinctive dysmorphic features were noted (Table 2 ). [bmcmedgenet.biomedcentral.com]

• Seizure

  We believe the ictal hiccup-like episodes followed by atonia to be a seizure semiology that has not previously been documented. [Published with video sequence]. [ncbi.nlm.nih.gov]

  […] trisomy 4p includes the 44 symptoms listed below: * Growth retardation * Obesity * Short stature * Severe mental retardation * Severe language delay * Delayed fine motor skills * Delayed social skills * Infant excessive muscle tone * Reduced muscle tone * Seizures [checkorphan.org]

  […] is critical for the development of a seizure disorder [ 25 ]. [bmcmedgenet.biomedcentral.com]

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]

Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. [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]

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]

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]

Selected Topics by National Center on Deaf-Blindness on Sep 11, 2016 2017 Etiologies in Order of Frequency by Category Hereditary Syndromes and Disorders CHARGE Syndrome 933 Down syndrome (Trisomy 21 syndrome) 315 Usher I syndrome 233 Stickler syndrome [nationaldb.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.ro]

F - 47, XYY Epidemiology: 1 / 1 000 male births. [atlasgeneticsoncology.org]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.ro]

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]

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]

National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008-16. [labtestsonline.it]

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]

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]