Presentation
We think that the coexisting deletion present in each of these patients is responsible for most of the observed differences in clinical manifestations. [onlinelibrary.wiley.com]
We present a case of an infant with a 46,XY, -15, +der(15),t(6;15)(q23;p12)pat chromosome complement. [docksci.com]
Discussion In the present study, we report two cases of chromosome 15q26.3 duplication and one case of ring chromosome 15 syndrome. [ec.bioscientifica.com]
Chromosomal studies are necessary to determine whether a balanced translocation is present in one of the parents. Other treatment for the disorder is symptomatic and supportive. [rarediseases.org]
Entire Body System
- Sepsis
The patient died of fulminant sepsis at 2 months of age. Permission for necropsy was denied. Y, CYTOGENETICS .) A'p~ T. aI Chromosome analysis of peripheral blood lymphocytes and skin fibroblasts showed 46 chromosomes. [docksci.com]
Cardiovascular
- Systolic Murmur
Examination of the heart indicated a grade III/VI systolic murmur with a loud click heard best at the left sternal border. Echocardiogram showed severe valvular pulmonary stenosis. Ultrasound of the head and kidneys showed no abnormalities. [docksci.com]
Musculoskeletal
- Long Arm
Three of the previously reported patients had duplication for the distal long arm of chromosome 6 owing to translocation with the short arms of acrocentric chromosomes.=5 Essentially these patients show pure duplication of the distal long arm of chromosome [docksci.com]
Annales de Genetique 46(2-3): 249, 2003 A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4. [eurekamag.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, “15q21” refers to band 21 on the long arm of chromosome 15. [rarediseases.org]
Abstract Nine related individuals have been identified as being trisomic for the distal part of the long arm of chromosome 15 (15q23 to 15qter). [ncbi.nlm.nih.gov]
A ring chromosome origins from a breakage in both the arms of the chromosome and a fusion of the breakpoints, with consequent loss of the distal fragments. This results in monosomy of the distal short and long arms of the chromosome involved (7). [ec.bioscientifica.com]
- Acrocephaly
Multiple congenital anomalies noted at birth included acrocephaly, microcephaly, downward slanting palpebral fissures, telecanthus, micrognathia, short neck with anterior webbing, carp shaped mouth, joint contractures, and club feet (fig 1). [docksci.com]
Treatment
Standard Therapies Treatment The treatment of Chromosome 15, Distal Trisomy 15q is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]
Prognosis
The variable phenotype makes clinical recognition difficult and precludes making a long‐term prognosis. The full text of this article hosted at iucr.org is unavailable due to technical difficulties. [onlinelibrary.wiley.com]
Etiology
IGF1R gene may also be involved in the etiology of neurological symptoms of these patients. [ec.bioscientifica.com]
Prevention
In addition, physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections. [rarediseases.org]