The 18q syndrome affecting the patient that we present isn’t included among these syndromes despite some cases presenting VUR have been reported [4]. [ncbi.nlm.nih.gov]

We present a patient with a bilateral primary VUR, syndromic disease caused by a large deletion of 18q (18q21.3-qter) and terminal duplication of 1p (1p36.32-p36.33). [read.qxmd.com]

In the case presented here, a trisomic portion was identified at chromosome 18. [spandidos-publications.com]

If the entire q arm is present in three copies, individuals may be as severely affected as if they had three full copies of chromosome 18. [medlineplus.gov]

In addition, in over 30 percent of cases, congenital heart defects may be present. [rarediseases.org]

• Epilepsy

  epilepsies and prognosis is variable. [seizure-journal.com]

  Proximal 18q deletion syndrome can lead to a wide variety of signs and symptoms among affected individuals, including delayed development and intellectual disability, recurrent seizures (epilepsy), behavioral problems, and characteristic facial features [medlineplus.gov]

  In three patients with epilepsy and a ring chromosome 20 in mosaic state (30–40%) (cases 27–29), we could not identify any genomic loss even using the platform at about 20 kb resolution. [jmg.bmj.com]

• Atrial Septal Defect

  She presented with laryngomalacia, atrial septal defect, a downturned mouth, transverse flexion creases and hypotonia, all of which are typical phenotypes of CdCS. [spandidos-publications.com]

• Cyanosis

  One of them also presented cyanosis and apnoeic episodes (autonomic seizures) [ ], while another patient also suffered from myoclonic seizures [ ]. EEG showed medium-high voltage waves. [seizure-journal.com]

• Long Arm

  American Journal of Medical Genetics 80(2): 133-135, 1998 Partial trisomy of chromosome 6q, an interstitial duplication of the long arm. [eurekamag.com]

  PMID: 15103719 Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype. [pubmed.ncbi.nlm.nih.gov]

  Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q.” Chromosomes are further subdivided into bands that are numbered. For example, “18q21” refers to band 21 of the long arm of chromosome 18. [rarediseases.org]

  The most frequent chromosome 18 aberrations described in literature associated with seizures are: deletion syndromes of the short (18p- deletion syndrome) and the long (18q- deletion syndrome) arms, duplications of different tracts of the long arm, ring [seizure-journal.com]

  In this case the patient has a partial monosomy for the distal short arm and distal long arm. [jmg.bmj.com]

• Short Arm

  Part a 136a(4): 381-385, 2005 Trisomy of the short arm of chromosome 5 due to a de novo inversion, duplication. [eurekamag.com]

  View Article : Google Scholar : PubMed/NCBI 16 Overhauser J, Huang X, Gersh M, et al: Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. [spandidos-publications.com]

  An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 18p is a version of chromosome 18 made up of two p arms. [medlineplus.gov]

  In this case the patient has a partial monosomy for the distal short arm and distal long arm. [jmg.bmj.com]

  Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q.” Chromosomes are further subdivided into bands that are numbered. For example, “18q21” refers to band 21 of the long arm of chromosome 18. [rarediseases.org]

• Small Head

  Characteristic craniofacial findings may include an unusually small head (microcephaly); flat, underdeveloped (hypoplastic) midfacial regions; deeply set eyes; a “carp-shaped” mouth; and/or relative protrusion of the lower jaw (mandibular prognathism) [rarediseases.org]

  Individuals with this chromosome abnormality often have intellectual disability, an unusually small head (microcephaly), widely spaced eyes (hypertelorism), low-set ears, and speech problems. [medlineplus.gov]

  A critical region for the microcephaly (small head) that is often present in 18q- has been shown to be located to band 18q21.33 [8,9]. [ncbi.nlm.nih.gov]

• Broad Nasal Bridge

  Some affected individuals may also have a broad nasal bridge; incomplete closure (clefting) or unusual narrowness of the roof of the mouth (palate); and/or an abnormal groove in the upper lip (cleft lip). [rarediseases.org]

• Psychomotor Retardation

  CASE REPORT: The patient was 8 years old female with a disease including moderate growth retardation, psychomotor retardation, facial dysmorphism, single umbilical artery, umbilical hernia, urachal remnant, bilateral congenital clubfeet and renal-urinary [read.qxmd.com]

  Case report The patient was 8 years old female with a disease including moderate growth retardation, psychomotor retardation, facial dysmorphism, single umbilical artery, umbilical hernia, urachal remnant, bilateral congenital clubfeet and renal-urinary [ncbi.nlm.nih.gov]

  retardation); and varying degrees of mental retardation. [rarediseases.org]

  In addition, the patient displayed psychomotor retardation, developmental delay and a long face, phenotypes which become evident with developing CdCS, however, she also had almond-shaped eyes and a bulbous nose (Fig. 1). [spandidos-publications.com]

• Cryptorchidism

  In males with the disorder, genital malformations may include undescended testes (cryptorchidism); an abnormally small penis (micropenis) and scrotum; and/or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis [rarediseases.org]

Standard Therapies Treatment The treatment of Chromosome 18q- syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

For the persistent of a postoperative reflux she was undertaken at the age of five years old to a subsequent Deflux® injection with a failure of the treatment. [ncbi.nlm.nih.gov]

Treatment with carbamazepine was ineffective, while lamotrigine reduced the frequency of seizures [ ]. [seizure-journal.com]

• Prognosis is variable and more severe in trisomy 18. [seizure-journal.com]

Therefore, determining which region has the genetic disorder in this case is of great clinical and etiological value. Materials and methods Patient data The two-year-old female patient was born at 39 weeks. [spandidos-publications.com]

References 1 Niebuhr E: The Cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 44:227–275. 1978. [spandidos-publications.com]

It is difficult to state which of these genes plays a major role in the pathophysiology of epilepsy associated with chromosome 18 rearrangements. [seizure-journal.com]

In some cases, anticonvulsant medications may be administered to help prevent, reduce, or control seizures. [rarediseases.org]