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 one patient, macrocephaly is present without overgrowth.18 Craniosynostosis was associated in 3 out of 10 cases. [nature.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]

• Multiple Congenital Anomalies

  The patient, a 16-month-old boy, was reffered for an evaluation of multiple congenital anomalies. He was born at term by normal delivery to a 23 year-old mother and an unrelated 27 year-old father. [bib.irb.hr]

  In conclusion, it is important to take family history and make appropriate diagnostic tests in a child with multiple congenital anomalies, so that detailed genetic counseling can be given to the family. References 1. Hassold TJ, Jacobs PA. [brieflands.com]

  In conclusion, it is important to take family history and make appropriate diagnostic tests in a child with multiple congenital anomalies, so that detailed genetic counseling can be given to the family. Figure 3. [ijp.tums.pub]

  Background Chromosomal abnormalities are a major driver of intellectual disability and multiple congenital anomalies. The abnormal chromosomes that cannot be identified are defined as marker chromosomes. [molecularcytogenetics.biomedcentral.com]

• Short Stature

  Dysmorphologic evaluation showed short stature, dysmorphic ears, broad nasal bridge, hypertelorism, long nasolabial philtrum, high arched palate, scoliosis, and short fingers. [jamanetwork.com]

  stature, distinctive facial abnormalities, and other features. [alicenova.it]

  […] highlight=15%20syndrome%20deletion): these patients have short stature, low birth weight, failure to thrive, microcephaly, neurological symptoms (delayed psychomotor development and mental retardation), typical facial abnormalities (micrognathia, triangular [ec.bioscientifica.com]

• Short Finger

  Dysmorphologic evaluation showed short stature, dysmorphic ears, broad nasal bridge, hypertelorism, long nasolabial philtrum, high arched palate, scoliosis, and short fingers. [jamanetwork.com]

• 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]

• High Arched Palate

  He had facial asymmetry, strabismus involving the left eye, narrow down-slanting palpebral fissures, prominent nose, overhanging columella, long philtrum, small pointed chin, midline crease in the lower lip and high arched palate [Figure 2]. [pediatricneurosciences.com]

  On examination, the child had dysmorphic features in the form of hypertelorism, down slanting eyes, low-set large ears, prominent metopic suture, bulbous nose, mandibular hypoplasia and high arched palate (Fig. 1). [indianpediatrics.net]

  arched palate, midline crease in the lower lip, micrognathia, and microcephaly. [jmg.bmj.com]

  Abstract This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. [ncbi.nlm.nih.gov]

  Dysmorphologic evaluation showed short stature, dysmorphic ears, broad nasal bridge, hypertelorism, long nasolabial philtrum, high arched palate, scoliosis, and short fingers. [jamanetwork.com]

• Prognathism

  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]

• Strabismus

  Identification DOI: https://doi.org/10.1067/mpa.2002.120642 Copyright © 2002 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved. ScienceDirect Access this article on ScienceDirect [jaapos.org]

  Figure 2: (a) Facial asymmetry, strabismus involving the left eye, narrow down-slanting palpebral fissures, prominent nose, overhanging columella, long philtrum, small pointed chin, midline crease in the lower lip. [pediatricneurosciences.com]

  Abstract This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. [ncbi.nlm.nih.gov]

  A number of features in three patients intersects with the proband here: developmental and language delays, low set ears, strabismus, and signs of hydrocephalus. [molecularcytogenetics.biomedcentral.com]

  20deletion): these patients have short stature, low birth weight, failure to thrive, microcephaly, neurological symptoms (delayed psychomotor development and mental retardation), typical facial abnormalities (micrognathia, triangular facies, low-set ears, strabismus [ec.bioscientifica.com]

• Brachydactyly

  It causes the temtamy preaxial brachydactyly syndrome (73). [ec.bioscientifica.com]

  Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1 a potential target of BMP signaling. [ncbi.nlm.nih.gov]

• 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]

• Suggestibility

  The abnormalities seen in this patient are consistent with previously reported cases of partial trisomy 15q and suggest a clinically recognisable phenotype. [jmg.bmj.com]

  A low-resolution cytogenetic evaluation performed at the time of death, 20 years earlier, was considered normal; however, his clinical features suggest that he had a 15q monosomy. Figure 2. [jamanetwork.com]

  We suggest that overgrowth might be causally related to a dosage excess of IGF1R gene. [nature.com]

  We suggest that these common clinical features might be due both to the over and down expression of genes mapped on the chromosome 15q26.3. [ec.bioscientifica.com]

  The findings suggested chromosomal anomaly and amniocentesis was done for fluorescent in-situ hybridization for chromosome 21 and karyotype analysis. The fluorescent in-situ hybridization for chromosome 21 showed two signals in each cell. [pediatricneurosciences.com]

• Hypertelorism

  A mild phenotype was observed with normal birth measurements, minor facial dysmorphic features (hypertelorism, short broad nose, and a relatively long philtrum), and moderate developmental delay at the age of 3 years in comparison to her male fraternal [onlinelibrary.wiley.com]

  C, Patient IV:10, with dysmorphic ears, broad nasal bridge, hypertelorism, and long nasolabial philtrum. [jamanetwork.com]

  On examination, the child had dysmorphic features in the form of hypertelorism, down slanting eyes, low-set large ears, prominent metopic suture, bulbous nose, mandibular hypoplasia and high arched palate (Fig. 1). [indianpediatrics.net]

  During a physical examination for this study, the 7-year-old patient showed stigmergy: the skull had a hydrocephalic shape with a high forehead, hypertelorism, convergent strabismus, large low-set protruding ears, peg-shaped teeth, macrostomia, and diastema [molecularcytogenetics.biomedcentral.com]

  In a review of 25 cases, the following main features were found: IUGR (100%), variable degree of mental retardation (95%), microcephaly (88%), hypertelorism (46%) and triangular facies (42%), delayed bone age (75%), brachydactyly (44%), speech delay [ec.bioscientifica.com]

• Broad Nasal Bridge

  B, Individual IV:8, showing dysmorphic ears and broad nasal bridge. C, Patient IV:10, with dysmorphic ears, broad nasal bridge, hypertelorism, and long nasolabial philtrum. [jamanetwork.com]

  nasal bridge, an abnormal philtrum, downturned mouth, high arched palate, midline crease in the lower lip, micrognathia, and microcephaly. [jmg.bmj.com]

  nasal bridge; and/or an unusually small, triangular mouth. [rarediseases.org]

  She had triangular face, microcephaly, thin hairs, arched eyebrows, blepharophimosis, broad nasal bridge and slight superior lip. She had clinodactyly and shortness of the second finger. [ec.bioscientifica.com]

• Thin Lips

  A, Individual IV:7, showing severe microcephaly, low frontal hairline, arched eyebrows, left microphthalmos, right anophthalmos, prominent upper lip with thin lips, micrognathia, and malformed external ears, suggestive of 15q monosomy. [jamanetwork.com]

• Global Developmental Delay

  The congenital anomalies and the global developmental delay in our case were thus, due to a partial distal trisomy of chromosome 15. [pediatricneurosciences.com]

  A number of features in three patients intersects with the proband here: developmental and language delays, low set ears, strabismus, and signs of hydrocephalus. [molecularcytogenetics.biomedcentral.com]

• Convulsions

  He had poor weight gain, hypotonia and bizzare convulsions starting in 1st month of life. Physical examination showed microcephaly, frontal bossing, apparently low-set ears, micrognathia, patent ductus arteriosus and undescended testes. [bib.irb.hr]

  During her first year of life she had a febrile convulsion and delayed neuropsychomotor development. She started having tonic-clonic seizures in adulthood, partially controlled by medication. [jamanetwork.com]

• 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]

• Multifocal Epileptiform Discharges

  Electroencephalography showed left temporal slow waves in the older brother and background abnormality associated with generalized and multifocal epileptiform discharges in the other. [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. Article Google Scholar Kunz, J. 1980. [nature.com]

A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014;55:396–402. [molecularcytogenetics.biomedcentral.com]

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. [alicenova.it]

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

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]