These patients presented with evidence of prenatal overgrowth and developed postnatal overgrowth. [hindawi.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]

These patients presented tonic-atonic, tonic–clonic, and absence seizures. [elsevier.es]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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

• Fishing

  (FISH using YACs 958HO2 and 928DO7 produced the same result.) [jmg.bmj.com]

  Representative images from FISH analysis of the proband’s mother. [journals.plos.org]

  Fluorescence in-situ hybridization (FISH) was carried out using whole chromosome painting probes for chromosome 15 (VYSIS, USA). [indianpediatrics.net]

  Figure 5 IGF1R: molecular and FISH studies. (a) FISH experiments with BAC 654A16 containing the IGF1R gene showed an additional signal at the end of the der(20) in proband of family 1. [nature.com]

  […] techniques. 61 Cora T...Oran B 10756424 2000 19 Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in [malacards.org]

• Feeding Difficulties

  At 8 months old he had occasional feeding difficulties and moderate growth retardation. Short term peripheral blood lymphocyte cultures were initiated and harvested by standard protocols. [jmg.bmj.com]

  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]

• Surgical Procedure

  The surgical procedures performed will depend upon the severity and location of the anatomical abnormalities and their associated symptoms. [rarediseases.org]

• 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]

  It is tempting to speculate that dosage excess of genes located in 15q24 leads to short limbs/IUGR instead of tall stature. [dovepress.com]

  […] 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]

• 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]

• 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]

  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]

  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]

  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]

• Heart Disease

  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]

  Commonly associated defects include seizures and congenital heart disease, a common cause of premature death in these children. [indianpediatrics.net]

• 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]

  Cardiomyopathy, renal anomalies or abnormal genitalia may also be found.[6,7] Our patient had microcephaly, micrognathia, long philtrum and high arched palate, which was consistent with the physical appearance described in this anomaly. [ncbi.nlm.nih.gov]

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

  arched palate Ptosis Strabismus Long face Prominent chin Broad nasal bridge Long chin Prominent nose and chin Prominent nose Broad nasal bridge Ptosis Blepharoptosis Hypotonia Large chin Broad nasal bridge Seizures Prominent nasal bridge Multiple joint [hindawi.com]

• Long Arm

  Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q.” Chromosomes are further subdivided into bands that are numbered. For example, “15q21” refers to band 21 on the long arm of chromosome 15. [rarediseases.org]

• Blepharoptosis

  Strabismus Long prominent nose Dolichocephalic Microcephaly Prominent nose *Died soon after birth High arched palate Ptosis Strabismus Long face Prominent chin Broad nasal bridge Long chin Prominent nose and chin Prominent nose Broad nasal bridge Ptosis Blepharoptosis [hindawi.com]

• Small Palpebral Fissures

  On examination, small palpebral fissures and mild micrognathia were present. The fingers were long and slender and there was bilateral fifth finger clinodactyly. There was also incurving and overlapping of the toes. [hindawi.com]

• Suggestibility

  The previous report of a child with cloverleaf skull and partial duplication of 15q25→qter and the Man-on-Mouse Homology map suggests that a critical segment for synostosis of sutures may be in this region. © 1992 Wiley-Liss, Inc. [onlinelibrary.wiley.com]

  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]

  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]

  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]

• Short Neck

  Symptoms * Prenatal growth retardation * Postnatal growth retardation * Mental retardation * Head malformations * Facial malformations * Short neck * Finger malformations * Toe malformations * Scoliosis * Skeletal malformations * Genital abnormalities [checkorphan.org]

  The child had short neck, deep sternal notch and scoliosis. The scrotal sac was underdeveloped with bilateral hypoplastic undescended testis. Neurologically the child was spastic with scissoring of legs and hypertonia. [indianpediatrics.net]

  neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470 15 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250 16 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508 17 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252 18 [malacards.org]

  neck, downward slanting, narrow, palpebral fissures, ptosis, prominent nose with a broad nasal bridge, an abnormal philtrum, downturned mouth, high arched palate, midline crease in the lower lip, micrognathia, and microcephaly. [jmg.bmj.com]

  Low-set ears, prominent nasal structure, high palate, micrognathia, short neck and cardiac findings are common, while arachnodactyly, pectus excavatum, hypertonicity, inguinal hernia and undescended testis are different findings present in our case. [ijp.tums.pub]

• 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]

  Prominent nose Broad nasal bridge Ptosis Blepharoptosis Hypotonia Large chin Broad nasal bridge Seizures Prominent nasal bridge Multiple joint contractures M: male; F: female; +: feature present; −: feature absent; blank: not known; VSD: ventral septal [hindawi.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]

• Frontal Bossing

  bossing Horseshoe kidney Strabismus Long prominent nose Dolichocephalic Microcephaly Prominent nose *Died soon after birth High arched palate Ptosis Strabismus Long face Prominent chin Broad nasal bridge Long chin Prominent nose and chin Prominent nose [hindawi.com]

  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]

• Cryptorchidism

  […] frequent (99-80%) HP:0000767 2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249 3 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218 4 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387 5 cryptorchidism [malacards.org]

  Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia. [ec.bioscientifica.com]

  […] anomalies (downslanting palpebral fissures and ptosis, large prominent nose, facial asymmetry, and micrognathia), arachnodactyly and camptodactyly, heart defects (septal communications, patent ductus arteriosus, pulmonary artery stenosis), hypogonadism and cryptorchidism [dovepress.com]

  In males, such abnormalities may include failure of the testes to descend into the scrotum (cryptorchidism) and/or low levels of testicular function (hypogonadism), resulting in delayed development of secondary sexual characteristics (i.e., deepening [rarediseases.org]

• Seizure

  Other types of seizures include partial complex seizures, generalised myoclonic seizures with adult onset, generalised tonic–clonic seizures, and benign epilepsy with centrotemporal spikes. [elsevier.es]

  At age 8 years he began to have generalized seizures with poor control despite medication. [jamanetwork.com]

  There was no history of seizures, encephalopathy, or jaundice in the neonatal period. He developed social smile at 3 months, and was recognizing his mother and reaching out for objects at the time of presentation. [pediatricneurosciences.com]

  Commonly associated defects include seizures and congenital heart disease, a common cause of premature death in these children. [indianpediatrics.net]

Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Additional abnormalities may involve malformation of the skeleton, spine and neck; fingers and/or toes; genitals (particularly in males); and, in some cases, heart problems.[1][2] Treatment[edit] The condition is incurable and treatment is based on alleviating [en.wikipedia.org]

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

Hosak L, Silhan P, Hosakova J: Genomic copy number variations: a breakthrough in our knowledge on schizophrenia etiology? Neuro Endocrinol Lett 2012, 33: 183–190. 19. [molecularcytogenetics.biomedcentral.com]

Contents 1 Signs and symptoms 2 Treatment 3 Epidemiology 4 See also 5 References 6 External links Signs and symptoms[edit] The disorder is primarily characterized by growth abnormalities, which range from growth retardation to accelerated growth, intellectual [en.wikipedia.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]