Broad phenotypic presentation of the terminal 4q deletion syndrome is consistent with incomplete penetrance of the individual symptoms. … Metadaten Author: Thomas Haaf, Barbara Vona, Indrajit Nanda, Cordula Neuner, Jörg Schröder, Vera M. [opus.bibliothek.uni-wuerzburg.de]

The upper part of the figure presents the mapped deletion intervals in chromosome 4q31.1qter including the present case, marked with a box, and 35 additional cases from DECIPHER and the literature. [ncbi.nlm.nih.gov]

Method: A comprehensive workup, including an amniocentesis, was performed on a 32-week fetus presenting with massive hydrops and polyhydramnios. [karger.com]

Among treatment options, the investigators chose bilateral distraction osteogenesis of the mandible in order to increase the subject's posterior airway space. [experts.umn.edu]

For example, most children with (del)4q21.1-21.3 do not have heart issues · Neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc) Treatments Most treatments are symptomatic, but it is important [internationalpain.org]

Treatment for this deletion varies based on the signs and symptoms present in each person. [dovemed.com]

[…] distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. [1] [2] Most cases are not inherited, although affected people can pass the deletion on to their children. [3] [4] Treatment [rarediseases.info.nih.gov]

The prognosis in children with 4q-syndrome, depends on the exact chromosomal breakpoint(s) [ 4, 12 ]. In 4q future research, genephenotype correlations are a central focus for global improvement [ 7 ]. [omicsonline.org]

Oral squamous cell carcinoma (OSCC) is a common malignancy worldwide and the prognosis for patients with advanced-stage OSCC is particularly poor. [pubfacts.com]

Ismail KM, Martin WL, Ghosh S, Whittle MJ, Kilby MD: Etiology and outcome of hydrops fetalis. J Matern Fetal Med 2001;10:175–181. [karger.com]

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature 2014 4 41 44% The etiology of Wolf-Hirschhorn syndrome 2005 79 58 33% Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed [kth.se]

(Etiology) People with Chromosome 4q Deletion Syndrome are missing genetic material located on the long arm (q) of chromosome 4 in each cell Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion [dovemed.com]

[…] behavior; Mental illness; Intellectual disabilities; 4q- syndrome; Rare chromosome disorders Introduction Developmental disorders comprise a heterogeneous group of conditions characterized by an interruption in normal development during childhood with many etiologies [omicsonline.org]

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J Mol Diagn 2010;12:204–212. 12. Pinto D, Marshall C, Feuk L, Scherer SW. [synapse.koreamed.org]

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet 2012;160C:250–262. 17. Weaver DD, Solomon BD, Akin-Samson K, Kelley RI, Muenke M. [synapse.koreamed.org]

Currently, Chromosome 4q Deletion Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

Systematic review: Preventive and therapeutic applications of metformin in liver disease. World J Hepatol. 2015;7:1652: Ampuero J, Ranchal I, Nuñez D, et al. [sapd.es]