Presentation
The present study reports the case of a 3‑year‑old female with certain typical features of trisomy 9p syndrome, who presented with a number of the distinctive symptoms, as well as sensorineural hearing loss, which has not previously been associated with [spandidos-publications.com]
Prognosis: Neonates with Nager syndrome may present with acute upper airway obstruction due to severe micrognathia. [thefetus.net]
A thorough cardiac evaluation may be advised to detect any heart defects that may be present. [rarediseases.org]
The apparent discrepancy may be explained by the insensitivity of comparative genomic hybridization to reveal changes that are present in fewer than 50% of the cells. [iv.iiarjournals.org]
Entire Body System
- Fishing
The results of FISH confirm the euchromatic nature of the extra material on the long arm of chromosome 9, and provide evidence that it is of chromosome 9 origin. [pubmed.ncbi.nlm.nih.gov]
Thus, a so called “probe splitting” is the most likely explanation for the observed FISH pattern and these four YACs must span the proximal breakpoint in 9q22.1. [jmg.bmj.com]
[…] trisomy 9q32 MedGen UID: 443929 •Concept ID: C2930907 • Cell or Molecular Dysfunction Synonyms: Duplication 9q32; Trisomy 9q32 Supplemental Content Table of contents Genetic Testing Registry Deletion/duplication analysis (3) Detection of homozygosity (2) FISH-metaphase [ncbi.nlm.nih.gov]
FISH using the probe specific for the 19q terminal region confirmed that the subtelomeres of the derivative chromosome 19 were intact. [hindawi.com]
- Disability
Facies, Female, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability, Magnetic Resonance Imaging, Muscular Atrophy, Translocation, Genetic, Trisomy ID: 46039454 [research.regionh.dk]
As children grow older, intellectual disability may become apparent. [rarediseases.org]
A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities. Singh S, Ashton F, Marquis-Nicholson R, Love JM, Lan CC, Aftimos S, George AM, Love DR. Singh S, et al. [pubmed.ncbi.nlm.nih.gov]
- Multiple Congenital Anomalies
congenital anomalies and the karyotype 46,XX, 9q+. [socolar.com]
Interstitial deletion 9q22-q32 is reported with multiple congenital anomalies. The phenotype of ring chromosome 9 is variable and the principal features of 9p monosomy can be observed, as well as certain malformations seen in trisomy 9. [m.kmle.co.kr]
Abstract Fluorescence in situ hybridization (FISH) studies using whole chromosome 9 painting probe, classical satellite (9q12-specific) probe and abl cosmid probe (locus: 9q34) were performed on a female infant who was born with multiple congenital anomalies [pubmed.ncbi.nlm.nih.gov]
Hum Genet 64:1–23 Google Scholar Wisniewski L, Purdy G, Hassola T, Wilson C, Bentley K, Hackel E, Higgins JV (1977) An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies. [link.springer.com]
Trisomy 9 mosaicism in a newborn infant with multiple malformations. J Pediatr. 1974;85:95-97. Feingold M, et al. A case of trisomy 9. J Med Genet. 1973;10:184-87. Haslam RH, et al. Trisomy 9 mosaicism with multiple congenital anomalies. [rarediseases.org]
- Developmental Delay
She has developmental delay, brachycephaly, facial dysmorphism, hand and foot anomalies, bilateral hearing loss, cardiac defect and abnormal brain MRI findings. [research.regionh.dk]
However, there have also been some reports in which individuals with the disorder have normal – typical psychomotor development or are only mildly developmentally delayed. [rarediseases.org]
Discussion Patients with 9q duplications have overlapping features, which include variable degrees of developmental delays, learning or intellectual deficits, facies characterised by dolicocephaly, asymmetry, deep set eyes or small palpebral fissures, [hindawi.com]
- Trisomy 21
Introduction Partial trisomy 9 is the fourth most common autosomal trisomy after trisomies 21, 18 and 13. Since Rethoré et al (1) reported the first identified case of partial trisomy 9 as a chromosomal anomaly, >150 cases have been described. [spandidos-publications.com]
Trisomy 9p is the fourth most common type of trisomy after trisomy 21 (Down syndrome), trisomy 18 (Edwards’s syndrome) and trisomy 13 (Patau syndrome). < Previous section Next section > < Previous section Next section > Diagnosis In some cases, the diagnosis [rarediseases.org]
Jaw & Teeth
- Microstomia
Duplication 9q32 (Trisomy 9q32): Chronic inflammatory lung disease, hypotonia, and microstomia. [accessanesthesiology.mhmedical.com]
Cardiovascular
- Cyanosis
[…] such as children with larger VSDs and/or other cardiac defects, associated symptoms and findings may include difficulties feeding, shortness of breath, profuse sweating, irritability, fatigue, bluish discoloration of the skin and/or mucous membranes (cyanosis [rarediseases.org]
Skin
- Eruptions
Teeth may erupt later than expected and may emerge crooked. [rarediseases.org]
Musculoskeletal
- Long Arm
The results of FISH confirm the euchromatic nature of the extra material on the long arm of chromosome 9, and provide evidence that it is of chromosome 9 origin. [socolar.com]
For example, the short arm of chromosome 9 includes bands 9p11 to 9p24, and the long arm includes bands 9q11 to 9q34. [rarediseases.org]
Pure partial trisomy for the long arm of chromosome 9. J Med Genet 13: 239-242, 1976 (3) Subrt I et al. Partial trisomy 9q- chromosomal syndrome. Hum Genet 34: 151-154, 1976 (4) Sutherland GR et al. Partial and complete trisomy 9. [syndromefinder.ncchd.go.jp]
arm of chromosome 9 (Figure 3 &4). [bmcmedgenet.biomedcentral.com]
- Dolichocephaly
Microcephaly with dolichocephaly, enophthalmy and microretrognathia are present. Characteristic osteoarticular anomalies include dislocation of the hips, knees or elbows, deformities of the spinal cord and rib anomalies. [m.kmle.co.kr]
Characteristic features of partial trisomy 9q34-qter are hypotonia, developmental delay, mild intellectual disability, dolichocephaly, distinct facial phenotype, long and thin fingers, and cardiac anomalies. [research.regionh.dk]
Facial dolichocephaly and asymmetry were noted. The eyes were mildly deep set. She had a short philtrum and mild microganthia (Figures 1(a) and 1(b)), with a high arched palate. [hindawi.com]
Breast
- Widely Spaced Nipples
She exhibited dysmorphic features: broad forehead, circular ears, widely spaced nipples, hypertelorism and deep set eyes. The child was noted to be developing slowly from 6 months, in particular fine and gross motor skills. [bmcmedgenet.biomedcentral.com]
Some affected infants may also have a short, webbed neck; a highly arched roof of the mouth (palate); and/or widely spaced nipples. Teeth may erupt later than expected and may emerge crooked. [rarediseases.org]
Psychiatrical
- Suggestibility
More severe and random defects are observed with complete trisomy 9 or tetrasomy 9p, suggesting an extreme excess of material greatly increases developmental variability. Publisher Wiley Subscription Services, Inc., A Wiley Company ISSN Other DOIs [deepblue.lib.umich.edu]
More recently chromosome 1 and 3 have also been suggested as having the gene responsible of Nager acrofacial dysostosis. [thefetus.net]
More severe and random defects are observed with complete trisomy 9 or tetrasomy 9p, suggesting an extreme excess of material greatly increases developmental variability. [eurekamag.com]
These results suggest that the use of targeted-inhibitors of CSF1R such as imatinib may be a good therapeutic option in the treatment strategy of locally advanced, metastatic, or recurrent TSGCTs. [iv.iiarjournals.org]
Since growth retardation is common in chromosome disorders, we suggest all patients with partial trisomy 9 to be evaluated for GH deficiency and GH treatment initiated generously. [bmcmedgenet.biomedcentral.com]
Face, Head & Neck
- Beaked Nose
Mosaicism appears to diminish the severity of the outlook. 9q32 trisomy shows dolichocephaly, deep set eyes with short palpebral fissures, large poorly folded ears, beaked nose, marked microretrognathia, long abnormally implanted fingers and toes and [m.kmle.co.kr]
Partial Trisomy 9q (Chromosome 9q Duplication Syndrome): Psychomotor retardation, deeply set eyes, microdolichocephaly, beaked nose, and microretrognathia. [accessanesthesiology.mhmedical.com]
- Thick Lips
Strabismus Bilateral epicanthus Strabismus Bilateral epieanthus Ears Low-set Normal Low-set Chin Receding Receding Receding Mouth Down-slanting corners Thin lips Normal, small-sized Down-slanting corners Thick lips Hands Low-set thumbs Single palmar creases [docksci.com]
Neurologic
- Language Delays
According to reports in the medical literature, language development appears to be most severely delayed. Learning disabilities, ranging from mild to severe, also occur. Intellectual and learning issues go hand in hand. [rarediseases.org]
Urogenital
- Cryptorchidism
[…] defect, patent ductus arteriosus, valve defects, double-outlet right ventricle, persistent left superior vena cava, endocardial fibroelastosis), urogenital system (hydronephrosis, duplication of collecting system, microcystic kidneys, dysplastic kidneys, cryptorchidism [accessanesthesiology.mhmedical.com]
These have included genital malformations in affected males, such as undescended testes (cryptorchidism) and/or abnormal placement of the urinary opening (hypospadias); kidney (renal) malformations; protrusion of part of the intestine and the fold of [rarediseases.org]
Workup
The primary role, however, of the emergency physician is to stabilize patients, treat acute prob lems, and determine if they need to be admitted for further workup. [wastecorp.com]
Clinical Testing and Workup There are different tests that can be performed on sample tissue for chromosomal analysis. [rarediseases.org]
Treatment
Key words: Chemotherapy, cancer treatment, dental treatment, oral mucositis, neurotoxicity, jaw osteonecrosis, intravenous bisphosphonates. [wastecorp.com]
Since growth retardation is common in chromosome disorders, we suggest all patients with partial trisomy 9 to be evaluated for GH deficiency and GH treatment initiated generously. [bmcmedgenet.biomedcentral.com]
Additional treatment for this disorder is symptomatic. For example, for congenital heart defects, treatment with medication, surgical intervention (palliative and/or corrective), and/or other measures may be required. [rarediseases.org]
Prognosis
The prognosis is most severe. [m.kmle.co.kr]
Prognosis: Neonates with Nager syndrome may present with acute upper airway obstruction due to severe micrognathia. [thefetus.net]
Patients with shorter dup 9q34 tend to have a better prognosis and would benefit from special education with input from their parents [2]. [hindawi.com]
Subjects with partial trisomy 9 seem to have better prognosis with few reported cases of reaching adulthood [2]. The aetiology and risk factors for this condition are not known [2]. [bmcmedgenet.biomedcentral.com]
Etiology
Etiology: The gene for this disorder may reside on chromosome 9. The gene is termed ZFP37, and maps to chromosome 9q32, encoding a putative transcription factor expressed in several tissues including human fetal cartilage. [thefetus.net]
Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome. J Craniofac Genet Dev Biol. 1983;3:313-16. Sanchez JM, et al. Report of a new case and clinical delineation of mosaic trisomy 9 syndrome. [rarediseases.org]
Pathophysiology
Osteoradionecrosis of the jaws: current understanding of its pathophysiology and treatment generic 2mg doxazosin free shipping gastritis symptoms in tamil. [wastecorp.com]
Prevention
So diferent parameters must be taken into consideration to prevent, reduce and overcome these side efects [3-5]. [wastecorp.com]
Oral health Oregon has a comprehensive state-based oral health surveillance system, a nationally recognized best practice school based dental sealant program, a robust statewide oral health coalition, a successful early childhood cavities prevention program [esehospitaldebaranoa.gov.co]