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]

• 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]

• 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]

• 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]

• 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]

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]

IGF1R gene may also be involved in the etiology of neurological symptoms of these patients. [ec.bioscientifica.com]

[…] 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]