Presentation
Mapping of the smallest region of LOH in these tumors and analysis of candidate genes present in the region of LOH will be continued. [psasir.upm.edu.my]
Additional physical abnormalities may also be present. In many cases, Chromosome 3, Monosomy 3p appears to occur spontaneously (de novo) for unknown reasons. [rarediseases.org]
Pts without improvement or with severe disease at presentation should be given antibiotics. Adjunctive treatments include intranasal administration of glucocorticoids, sinus irrigation, and surgical evaluation. [concater.com]
Giant Hypertrophic 11 Gastroenteritis Eosinophilic 12 GlucoseGalactose Malabsorption 343 Hepatorenal Syndrome 344 Hirschsprung Disease 345 Intestinal Lymphangiectasia 346 Intestinal Pseudoobstruction in Adults 347 Intestinal Pseudoobstruction Pediatric Presentation [books.google.de]
Entire Body System
- Cerebral Palsy
palsy 4462 B00309 Charlie M syndrome 4463 B00325, B00326 1q4 monosomy del(1)(q42 or q43-qter) (1q42 or q43-qter monosomy) 4464 B00327 1q25-q32 trisomy dup(q25-q32) [Dup(1q) syndrome] 4465 B00328 1q32-qter trisomy dup(1)(q32-qter) [Dup(1q) syndrome] 4466 [syndromefinder.ncchd.go.jp]
Syndrome Cataract Dental Syndrome Cataracts Catel Manzke Syndrome Caudal Regression Syndrome Cavernous Hemangioma Cayler Syndrome Central Core Disease Central Hypoventilation Syndrome, Congenital Cerebellar Agenesis Cerebellar Degeneration, Subacute Cerebral [medschool.umaryland.edu]
- Short Stature
E Eales Disease Ear, Patella, Short Stature Syndrome Eaton Lambert Syndrome Ectodermal Dysplasias Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate Ehlers Danlos Syndrome Ellis Van Creveld Syndrome Emphysema, Congenital Lobar Empty Sella Syndrome Encephalocele [medschool.umaryland.edu]
- Pathologist
[…] who have an interest in the genetic mechanisms involved in cancer and to all pathologists who direct a cytogenetics or molecular genetics laboratory." [link.springer.com]
Cardiovascular
- Mitral Valve Prolapse
Valve Prolapse Syndrome Mixed Connective Tissue Disease (MCTD) Moebius Syndrome Monilethrix Morquio Syndrome Motor Neuron Disease Moyamoya Disease Mucha Habermann Disease Mucolipidosis IV Mucopolysaccharidosis Mulibrey Nanism Syndrome (Perheentupa Syndrome [medschool.umaryland.edu]
Musculoskeletal
- Short Arm
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. Therefore, 3p25 refers to band 25 on the short arm of chromosome 3. [rarediseases.org]
Home / Disease / Chromosome 3- monosomy 3p2 Overview Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. [checkorphan.org]
Other monosomies are usually... - deletion of the short arm of chromosome number 5, also called "5p monosomy" or "partial monosomy." Approximately 90% of cases result from a sporadic, or randomly... - this condition is 18p-. [wordaz.com]
The highest incidence was observed in chromosome 3p with the frequency of 48.6%. while a low frequency of 2.7% was detected in the short-arm of chromosome 17 at position 17~13.1w, hereby lies the p53 tumor suppressor. [psasir.upm.edu.my]
- Small Head
* Downturned mouth * Droopy eyelids * Excessive hair growth * Flat nose * Growth delay * Long head * Low set ears * Prominent forehead * Retarded fetal growth * Scoliosis * Small head * Sunken chest * Triangular face * Wide set eyes Diagnosis The signs [checkorphan.org]
Many affected infants have an abnormally small head (microcephaly) that may appear unusually short and broad (brachycephaly); a flat back region of the head (occiput); and/or an abnormally high, narrow, prominent forehead. [rarediseases.org]
Skin
- Hypertrichosis
[…] before and after birth (prenatal and postnatal growth deficiency); severe to profound mental retardation; distinctive malformations of the skull and facial (craniofacial) region; eyebrows that grow together (synophrys); and/or excessive hair growth (hypertrichosis [rarediseases.org]
Ears
- Low Set Ears
[…] eyes * Low set ears * Abnormal ears * Broad nose * Flat nose * Sunken chest * Scoliosis * Downturned mouth * Delayed puberty Causes * Abnormal ears * Broad nose * Delayed puberty * Downturned mouth * Droopy eyelids * Excessive hair growth * Flat nose [checkorphan.org]
Psychiatrical
- Auditory Hallucination
Transcranial magnetic stimulation of left temporoparietal cortex and medication-resistant auditory hallucinations. Long-term effectiveness of supported employment: 5-year follow-up of a randomized controlled trial. [concater.com]
Face, Head & Neck
- Broad and Flat Nose
nose * Flat nose * Sunken chest * Scoliosis * Downturned mouth * Delayed puberty Causes * Abnormal ears * Broad nose * Delayed puberty * Downturned mouth * Droopy eyelids * Excessive hair growth * Flat nose * Growth delay * Long head * Low set ears * [checkorphan.org]
- Hypertelorism
Affected individuals may also have a downwardly turned mouth; widely spaced eyes (ocular hypertelorism); vertical skin folds that cover the eyes’ inner corners (epicanthal folds); upwardly slanting eyelid folds (palpebral fissures); drooping of the upper [rarediseases.org]
Workup
Microbiology
- Staphylococcus Aureus
Nosocomial cases, which are associated with nasotracheal intubation, are commonly caused by Staphylococcus aureus and gram-negative bacilli and are often polymicrobial and highly resistant to antibiotics. [concater.com]
Treatment
Health care utilization and treatment persistence associated with oral paliperidone and lurasidone in schizophrenia treatment. [concater.com]
Standard Therapies Treatment The treatment of Chromosome 3, Monosomy 3p is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]
Pubertal delay Directions to Hospitals Treating Pubertal delay Risk calculators and risk factors for Pubertal delay Healthcare Provider Resources Symptoms of Pubertal delay Causes & Risk Factors for Pubertal delay Diagnostic studies for Pubertal delay Treatment [wikidoc.org]
A listing of some of the many disorders for which scientists and health care professionals hope to discover improved treatments and cures through research. [medschool.umaryland.edu]
Prognosis
The new markers offer great promise, not only for their clinical utility in diagnosis, prognosis, and disease monitoring, but also for their contributions to a better understanding of the mechanisms of tumor development and progression. [link.springer.com]
Etiology
Methods: After obtaining informed consent, chromosomal microarray testing was performed for patients with unknown etiology. Results: We identified three Japanese patients with 3p13 microdeletions involving FOXP1. [pubmed.ncbi.nlm.nih.gov]
Prevention
The basic protection is to prevent a reduction below a level of compensation or statutory award that has been received for 20 or more consecutive years. However, payment is effective the first day of the month following the effective date. [concater.com]