The present observation emphasises the importance of chromosome analysis in patients with overgrowth and mental retardation. [nature.com]

The phenotypic features present in the patient are partially compatible with the reported partial trisomy 15 cases, but also contain some differences. [ijp.tums.pub]

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]

In the present report, we describe a case of partial trisomy 15q arising due to maternal reciprocal translocation involving chromosomes 10 and 15. [indianpediatrics.net]

• Weight Gain

  Birth weight was 2700 g. height 45 cm and head circumference 30 cm. He had poor weight gain, hypotonia and bizzare convulsions starting in 1st month of life. [bib.irb.hr]

• Coarctation of the Aorta

  Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21 → qter) and partial monosomy 6q (6q27 → qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. [pediatricneurosciences.com]

• 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

  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]

• 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]

• 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]

• Short Fifth Finger

  On physical examination we observed short stature, long face, high forehead, telecanthus, prognathism, flat philtrum, thin lips, and short fifth finger with camptodactyly. Neurologic examination showed no focal signs. [jamanetwork.com]

• Antimongoloid Slant

  Distinctive craniofacial features may include microcephaly, antimongoloid slant, epicanthal folds, micrognathia, flattened nasal bridge, long philtrum, puffy cheeks and high arched palate. [4],[5],[6],[7] Other abnormalities may include hypotonia, seizures [pediatricneurosciences.com]

• Widely Spaced Nipples

  A, Microcephaly, low set ears, micrognathia, triangular facial structure, bilateral ptosis, prominent nasal structure, full cheeks; B, elongated foot structure; and C, hypertonicity, widely spaced nipples, pectus excavatum, arachnodactyly. Figure 2. [ijp.tums.pub]

• Generalized Tonic-Clonic Seizure

  He developed generalized tonic-clonic seizures at age 3 years, with satisfactory control on medication. In addition, he showed abnormal behavior with heteroaggressivity, controlled with medication. [jamanetwork.com]

• Epileptiform Activity

  His electroencephalogram showed abnormal background activity with generalized and multifocal epileptiform activity. [jamanetwork.com]

• Gliosis

  Her interictal electroencephalogram was considered normal, and the MR image showed multiple areas of gliosis attributed to head trauma, but no identifiable hippocampal abnormalities. [jamanetwork.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. Kunz, J. 1980. [nature.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]