Presentation
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
-
Tall Stature
trisomy 15q25-qter), affected individuals may exhibit abnormally tall stature. (For more information on trisomy 15q25-qter, see the “Causes” section below.) [rarediseases.org]
-
Arachnodactyly
Affected individuals may have unusually long, thin fingers and/or toes (arachnodactyly), permanently flexed fingers (camptodactyly), and/or excessive extension (hyperextension) of the thumbs. [rarediseases.org]
-
Fishing
A partial trisomy 15q due to 15;17 translocation detected by conventional cytogenetic and FISH techniques. Genet Couns. 2000;11:25-32. Zollino M, et al. [rarediseases.org]
-
Feeding Difficulties
In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]
-
Physician
Physicians may also regularly monitor affected individuals for such infections to ensure early detection and appropriate, prompt treatment. [rarediseases.org]
Respiratoric
-
Aspiration
In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]
-
Pneumonia
In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]
Musculoskeletal
-
Flexion Contracture
In some cases, abnormalities involving the joints, tendons, muscles, and bones (e.g., flexion contractures, malformations of the fingers and/or toes, scoliosis) may be treated with orthopedic techniques potentially in combination with surgery. [rarediseases.org]
-
Dolichocephaly
In some cases, the fibrous joints between certain bones in the skull (sagittal sutures) close prematurely (craniosynostosis), causing the head to appear abnormally long and narrow (dolichocephaly). [rarediseases.org]
-
Thin Fingers
Affected individuals may have unusually long, thin fingers and/or toes (arachnodactyly), permanently flexed fingers (camptodactyly), and/or excessive extension (hyperextension) of the thumbs. [rarediseases.org]
Psychiatrical
-
Suggestibility
Clinical similarities between unrelated individuals with similar duplicated 15q material, but differing second chromosomes, suggest that the phenotype is due to the extra distal 15q chromosomal material. [ncbi.nlm.nih.gov]
Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and studied. [rarediseases.org]
-
Impulsivity
In addition, in some cases, electroencephalography (EEG), which records the brain's electrical impulses, may reveal brain wave patterns that are characteristic of certain types of seizure activity. [rarediseases.org]
Face, Head & Neck
-
Bulbous Nose
nose with a broad nasal bridge; and/or an unusually small, triangular mouth. [rarediseases.org]
-
Broad Nasal Bridge
nasal bridge; and/or an unusually small, triangular mouth. [rarediseases.org]
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]
Prevention
In addition, physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections. [rarediseases.org]