Presentation
In one patient, macrocephaly is present without overgrowth.18 Craniosynostosis was associated in 3 out of 10 cases. [nature.com]
The phenotypic features present in the patient are partially compatible with the reported partial trisomy 15 cases, but also contain some differences. [brieflands.com]
In addition, we present data on the extended family. Among patients with epilepsy followed up in our hospital, we identified 2 brothers (Figure 1) with epilepsy and mental retardation who presented dysmorphic features. [jamanetwork.com]
A child with trisomy 15q syndrome presented prior to the second decade of life with visible disc drusen. The genetic defect may yield a clue to the location of the genetic locus for development of optic disc drusen. [jaapos.org]
Respiratoric
- Respiratory Distress
The presence of congenital heart disease, skeletal abnormalities, respiratory distress/infection, and seizures varied among patients. Our case is, to our knowledge, the first de novo interstitial tandem duplication of only the medial region of 15q. [jmg.bmj.com]
- 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]
- 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]
Gastrointestinal
- Failure to Thrive
The infant suffered from respiratory complications and failure to thrive. Further investigations showed hypothyroidism and a vascular ring (which was subsequently repaired). [jmg.bmj.com]
Finally, patient 3 had IUGR, failure to thrive, mental and psychomotor retard, café-au-lait patches. We reviewed 96 patients with chromosome 15q duplication and we summarized the main clinical features in Table 1. [ec.bioscientifica.com]
Case Report An eight-month-old male child born to non-consanguineous parents was referred for genetic analysis with a history of develop-mental delay and failure to thrive. The father was 30 years old and the mother was 28 years old. [indianpediatrics.net]
Such feeding and swallowing difficulties may result in or contribute to an affected infant’s failure to grow or gain weight at the expected rate (failure to thrive). [rarediseases.org]
Musculoskeletal
- Lordosis
Hyperlaxity and a lumbar lordosis were also noticed. She was mildly retarded and needed special education at school. X-rays examination showed large epiphyses. Cardiac and renal ultrasound as well as neuroimaging showed no visceral malformations. [nature.com]
- 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]
Face, Head & Neck
- Frontal Bossing
Physical examination showed microcephaly, frontal bossing, apparently low-set ears, micrognathia, patent ductus arteriosus and undescended testes. [bib.irb.hr]
She was mildly dysmorphic with a large head and frontal bossing, an elongated face, slight midface retraction, a pointed chin, and small low-set ears. Wrists and ankles were large and thumbs were short. [nature.com]
bossing (36%), anomalous ears (30%), café-au-lait spots (30%), cryptorchidism (30%), cardiac abnormalities (30%) (66). [ec.bioscientifica.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]
A simple R-banding technique by BrdU-Hoechst treatment and Giemsa staining following heating, and ultraviolet exposure.Jpn. J. Human. Genet. 29: 113–138. Article Google Scholar Kunz, J. 1980. [nature.com]
Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. [alicenova.it]
A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014;55:396–402. [molecularcytogenetics.biomedcentral.com]
Etiology
IGF1R gene may also be involved in the etiology of neurological symptoms of these patients. [ec.bioscientifica.com]
Prevention
[…] megalencephaly.J Pediatr Ophthalmol Strabismus. 1989; 26: 81-85 Article Info Publication History Accepted: September 25, 2001 Received in revised form: September 25, 2001 Received: March 22, 2001 Footnotes ☆Supported by an unrestricted grant from Research to Prevent [jaapos.org]
The importance of extended family screening for the same balanced translocation on the mother's side; and its importance for the prevention of recurrences in the extended family has been explained. [pediatricneurosciences.com]
The size of the translocated 13q segment prevents its visualization. (c) Unbalanced translocation der(13)t(13;15). (d) CGH showing trisomy 15q26.1qter. The monosomy 13q is not detected. [nature.com]
In addition, physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections. [rarediseases.org]
Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy–Walker phenotype. Am J Med Genet. 2000;95:425–8. Article Google Scholar Samanta D, Ramakrishnaiah R. Novel brain magnetic resonance imaging finding in a patient with trisomy 9p syndrome. [molecularcytogenetics.biomedcentral.com]