Marked morbid obesity was also present on physical examination with a BMI above the 99.9th percentile for age and sex (Figure 2). [cureus.com]

Nevertheless, many individuals with this microduplication syndrome have very mild presentations with no major birth defects being observed. [dovemed.com]

The present study consisted of a pilot genome-wide screen for CNVs in a cohort of 16 patients with early-onset obsessive-compulsive disorder (OCD) and 12 mentally healthy individuals, using array-based comparative genomic hybridization (aCGH) on 44K arrays [portal.findresearcher.sdu.dk]

Microdeletion carriers have a five-fold risk to present with various degrees of ID compared to patients without these risk factors. [ikmb.uni-kiel.de]

Oropharyngeal dysphasia was present in 21 of 29 (72%). A history of dilated cardiomyopathy in infancy was present in 7 subjects (23%). In none did the condition worsen over time. [healthjade.net]

• Epilepsy

  We screened 570 patients with pediatric epilepsies including idiopathic generalized epilepsies, focal epilepsies and fever-associated epilepsy syndromes for microdeletions at 15q11.2, 15q13.3 and 16p13.11 using quantitative polymerase chain reaction. [ikmb.uni-kiel.de]

  Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dimorphisms as well as severe psychomotor delay and intellectual disability. [moh-it.pure.elsevier.com]

  This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. [research.manchester.ac.uk]

  Many of these individuals have delayed speech and language skills. 15q13.3 microdeletion also appears to be a major risk factor for recurrent seizures (epilepsy); about one-third of people with this chromosomal change have epilepsy. 15q13.3 microdeletion [encyclopedia.pub]

• Disability

  Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dimorphisms as well as severe psychomotor delay and intellectual disability. [moh-it.pure.elsevier.com]

  It appears to be more common in people with intellectual disability, epilepsy, schizophrenia, or autism spectrum disorders. 3. [encyclopedia.pub]

  mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Intellectual disability, moderate IQ between 34 and 49 0002342 Intellectual disability, severe Early and severe mental retardation [rarediseases.info.nih.gov]

• Developmental Delay

  Speech-Language pathology Evaluate for speech disorders and developmental delay. Early referral for speech and language therapy as needed. [cureus.com]

  Human genes for chromosome 15q13.3 microdeletion syndrome Chromosome 15q13.3 microdeletion syndrome [DOID:0060394] A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure [diseases.jensenlab.org]

  Phenotypes in the children included developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems. [profiles.wustl.edu]

  Julia is extremely intelligent, however, she missed any and every important milestone diagnosing her with being "globally developmentally delayed". [gofundme.com]

  Developmental delays tend to affect language and cognitive function more than motor function. [healthjade.net]

• Heart Disease

  heart disease such as atrial/ventricular septal defects. [cureus.com]

  Congenital anomalies were found in only six patients, with congenital heart disease being most frequent.10 The first reports of patients with 15q13.3 deletion syndrome described individuals with the predominate phenotype of intellectual disability and [nature.com]

  By contrast, major congenital malformations, including congenital heart disease (2.4%), were uncommon. Placenta previa occurred in the pregnancies of 4 cases. [healthjade.net]

• Macrocephaly

  Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Frontal bossing 0002007 Macrocephaly [rarediseases.info.nih.gov]

• Small Head

  Large head circumference [ more ] 0000256 Macrotia Large ears 0000400 Melanocytic nevus Beauty mark 0000995 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [rarediseases.info.nih.gov]

• Strabismus

  Prominent tip of nose Pronounced nasal tip Pronounced tip of nose [ more ] 0005274 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Schizophrenia 0100753 Seizure 0001250 Short stature Decreased body height Small stature [ more ] 0004322 Strabismus [rarediseases.info.nih.gov]

• Visual Impairment

  impairment with additional signs of congenital stationary night blindness (CSNB), congenital hypotonia with areflexia, profound intellectual disability, and refractory epilepsy. [refine.bio]

  […] disorder X X X ADHD X X X Schizophrenia X X Multiple congenital abnormalities X Congenital heart disease X Hypotonia X X Seizures X X X EEG abnormalities X Visual impairment X Genital hypoplasia X Growth hormone deficiency X X Hypothyroidism X Hyperprolactinemia [cureus.com]

• Visual Impairment

  impairment with additional signs of congenital stationary night blindness (CSNB), congenital hypotonia with areflexia, profound intellectual disability, and refractory epilepsy. [refine.bio]

  […] disorder X X X ADHD X X X Schizophrenia X X Multiple congenital abnormalities X Congenital heart disease X Hypotonia X X Seizures X X X EEG abnormalities X Visual impairment X Genital hypoplasia X Growth hormone deficiency X X Hypothyroidism X Hyperprolactinemia [cureus.com]

• Night Blindness

  blindness (CSNB), congenital hypotonia with areflexia, profound intellectual disability, and refractory epilepsy. [refine.bio]

• Compulsive Disorder

  Disorder Fingerprint Dive into the research topics of 'An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder'. [portal.findresearcher.sdu.dk]

  Characteristics of all copy number variations (CNVs) in obsessive-compulsive disorder (OCD) patients and controls. [docksci.com]

  Some individuals with 3p deletion syndrome have obsessive-compulsive disorder (OCD) or features of autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. [healthjade.net]

• Aggressive Behavior

  […] smaller deletions encompassing only the CHRNA7 gene, encoding an alpha-7 nicotinic receptor with high expression in the brain, have phenotypic consequences similar to those of the larger BP4–BP5 deletion, including intellectual disability, seizures, aggressive [nature.com]

  Behavioral problems were frequent (59%), and comprised poor attention span, hyperactivity, and aggressive/impulsive behavior. [healthjade.net]

• Psychomotor Retardation

  At the age of 9 years, the patient was referred for molecular analysis of the karyotype because of dysmorphic features uncharacteristic of TS such as moderate psychomotor retardation, significant language delay and autism. [oatext.com]

• Hypertelorism

  Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dimorphisms as well as severe psychomotor delay and intellectual disability. [moh-it.pure.elsevier.com]

  […] changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ] 0000708 Brachydactyly Short fingers or toes 0001156 Hypertelorism [rarediseases.info.nih.gov]

• Hyperactivity

  Copy number variations (CNVs) have been previously associated with several different neurodevelopmental psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivity disorder (ADHD). [portal.findresearcher.sdu.dk]

  […] disorder Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ] 0007018 Autism 0000717 Bipolar affective disorder Bipolar disorder 0007302 Clinodactyly [rarediseases.info.nih.gov]

• Global Developmental Delay

  Julia is extremely intelligent, however, she missed any and every important milestone diagnosing her with being "globally developmentally delayed". [gofundme.com]

  Primary care Early screening for the global developmental delay with an emphasis on speech and behavior. Referral for neuropsychiatric or neurodevelopmental evaluation as indicated. [cureus.com]

  Showing of 34 | Medical Terms Other Names Learn More: HPO ID 30%-79% of people have these symptoms Abnormal facial shape Unusual facial appearance 0001999 Global developmental delay 0001263 Intellectual disability Mental deficiency Mental retardation [rarediseases.info.nih.gov]

• Profound Intellectual Disability

  intellectual disability, and refractory epilepsy. [refine.bio]

  This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features 33). Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. [healthjade.net]

• Areflexia

  […] identified a novel homozygous 15q13.3 microdeletion in a young boy with a complex neurodevelopmental disorder characterized by severe cerebral visual impairment with additional signs of congenital stationary night blindness (CSNB), congenital hypotonia with areflexia [refine.bio]

• Cognitive Disorder

  15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. [research.vumc.nl]

and in some cases, due to treatment also. [dovemed.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

What is the Prognosis of Chromosome 15q13.3 Microdeletion Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 15q13.3 Microdeletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

prognosis depends on the clinical features. [healthjade.net]

Variations in expressivity and penetrance create challenges in establishing a prognosis even after genetic testing [6]. [cureus.com]

Therefore, as could be expected from these observations, the study of CNV has allowed a more comprehensive understanding of disease etiology, bringing rare variants to the forefront [7]. [docksci.com]

(Etiology) Chromosome 15q13.3 Microdeletion Syndrome is caused by a deletion of genetic material in the long arm (q) of chromosome 15. [dovemed.com]

Chromosomal microarray revealed a microdeletion of 443 kb at the 15q13.3 locus which explains the etiology of her phenotype and impulsive behavior. [cureus.com]

These findings corroborate the hypothesis that genes involved in the glutamatergic system may contribute to the pathophysiology of OCD [33,34]. [docksci.com]

A multidisciplinary care approach must be established with these patients early on to prevent future complications. The current treatment strategies aim to slow or prevent associated complications. [cureus.com]

How can Chromosome 15q13.3 Microdeletion Syndrome be Prevented? Chromosome 15q13.3 Microdeletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]

Prevention of secondary complications Immunization of infants who have lymphocyte abnormalities with live vaccines is not recommended; reevaluate immune status in childhood before giving live vaccines; antibody studies to assess results of immunizations [healthjade.net]