The signs and symptoms of 15q13.3 Microdeletion Syndrome may include: Very frequently present symptoms in 80-99% of the cases: Abnormal facial shape Frequently present symptoms in 30-79% of the cases: Occasionally present symptoms in 5-29% of the cases [dovemed.com]

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]

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]

  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]

  […] with a complex neurodevelopmental disorder characterized by severe cerebral visual impairment with additional signs of congenital stationary night blindness (CSNB), congenital hypotonia with areflexia, profound intellectual disability, and refractory epilepsy [refine.bio]

  Recurrent deletions of chromosome 15q13.3 associate with intellectual disability, schizophrenia, autism and epilepsy. [profiles.wustl.edu]

• Developmental Delay

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

  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]

  Clinical CMA is considered a first-tier test in the evaluation of individuals with developmental delay, intellectual disability, congenital anomalies, or autism spectrum disorder. [nature.com]

  [Crossref] Tomkins DJ, McDonald HL, Farrell SA, Brown CJ (2002) Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay. Eur J Hum Genet. 10: 44–51. [oatext.com]

• Short Stature

  However, there are some cardinal features: short stature (>99%), gonadal dysgenesis (>90%) and anatomic malformations such as Pterigium colli or cubitus valgus (>80%) [5]. [oatext.com]

  Additional features of this condition may include short stature, obesity, or sparse hair. [healthjade.net]

  stature Strabismus In addition to the above, the following signs and symptoms may be present in some affected individuals: Abnormality of the palpebral fissures Abnormality of the pinna Behavioral abnormality Brachydactyly Hypertelorism Intellectual [dovemed.com]

  […] tone 0001252 Prominent nasal tip Large nasal tip Large tip of nose 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 [rarediseases.info.nih.gov]

• Fever

  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]

  Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19. [meta.org]

• Developmental Disabilities

  Accounting for ascertainment, developmental disability/intellectual disability was present in 57.7%, epilepsy/seizures in 28.0%, speech problems in 15.9%, autism spectrum disorder in 10.9%, schizophrenia in 10.2%, mood disorder in 10.2%, and attention [healthjade.net]

• Common Cold

  cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). [meta.org]

• Visual Impairment

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

  impairment X Genital hypoplasia X Growth hormone deficiency X X Hypothyroidism X Hyperprolactinemia X Hypoventilation X At present, there are no specific guidelines or algorithms in place to standardize the treatment of this condition. [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]

  impairment X Genital hypoplasia X Growth hormone deficiency X X Hypothyroidism X Hyperprolactinemia X Hypoventilation X At present, there are no specific guidelines or algorithms in place to standardize the treatment of this condition. [cureus.com]

• Long Arm

  (Etiology) 15q13.3 Microdeletion Syndrome is caused by a deletion on the long arm of chromosome 15 that spans at least 7 genes and usually includes the CHRNA7 gene The condition can be inherited in an autosomal dominant manner with reduced penetrance, [dovemed.com]

  Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition. 15q13.3 microdeletion syndrome is caused by a deletion on the long arm of chromosome 15 that spans [gofundme.com]

  Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition.[1][2] 15q13.3 microdeletion syndrome is caused by a deletion on the long arm of chromosome 15 that [rarediseases.info.nih.gov]

• Small Head

  head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 Prominent nasal tip Large nasal tip Large tip of nose Prominent tip of nose Pronounced nasal tip Pronounced tip of nose [ more ] 0005274 Protruding ear Prominent ear [rarediseases.info.nih.gov]

• Hearing Impairment

  Additional clinical characteristics include seizures, cardiomyopathy, developmental delay, and hearing impairment 6). Heilstedt et al. 7) reported 62 patients with monosomy 1p36. [healthjade.net]

• Widely Spaced Nipples

  She showed features suggestive of TS such as widely spaced nipples, Pterygium colli and coarctation of the aorta. Pelvic ultrasonography revealed a small uterus and rudimentary gonads that were surgically removed. [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]

  Schizophrenia Seizures Short stature Strabismus In addition to the above, the following signs and symptoms may be present in some affected individuals: Abnormality of the palpebral fissures Abnormality of the pinna Behavioral abnormality Brachydactyly Hypertelorism [dovemed.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]

• Abnormal Behavior

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

• Impulsivity

  We describe the case of a four-year-old female with CHRNA7 15q13.3 microdeletion presenting with morbid obesity due to impulsive food-seeking behavior. [cureus.com]

  […] to be a major risk factor for recurrent seizures (epilepsy); about one-third of people with this chromosomal change have epilepsy. 15q13.3 microdeletion has also been associated with behavioral problems, including a short attention span, aggression, impulsive [encyclopedia.pub]

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

  Received: 16 October 2015 Accepted: 09 January 2016 Published: 10 March 2016 Issue Date: November 2016 DOI: https://doi.org/10.1038/gim.2016.9 Keywords autistic disorder behavior 15q13.3 deletion neurodevelopment Further reading Rapid-Onset Obesity Due to Impulsive [nature.com]

• 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]

  Indications for study in these 69 individuals included developmental delay, autism, dysmorphic features, seizures, hypotonia, obsessive compulsive disorder, and congenital heart defect. [healthjade.net]

• Short Attention Span

  attention span, aggression, impulsive behavior, and hyperactivity. [encyclopedia.pub]

• Low Self-Esteem

  The potential complications of 15q13.3 Microdeletion Syndrome may include: Delay in reaching developmental milestones Low self-esteem due to one’s appearance Behavioral problems Risk of falls and injury due to seizures Complications may occur with or [dovemed.com]

• Seizure

  This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features. 1. [encyclopedia.pub]

  […] other affected individuals (even within the same family), or no symptoms at all Features of the condition may include mild to moderate intellectual disabilities, learning delays, or normal intelligence; autism spectrum disorders; epilepsy (recurrent seizures [dovemed.com]

  Clinical characteristics of the 15q13.3 microdeletion are rapid-onset obesity, hypotonia, autism, seizures, congenital cardiac defects, and neuropsychiatric disorders including impulsive hyperphagia. [cureus.com]

  Seizure disorder: Individuals with 1p36 Deletion Syndrome may have different types of seizures. Most seizure disorders can be controlled with medication. Growth/feeding problems: Infants with this condition often have difficulty gaining weight. [healthjade.net]

  Shortly thereafter, Julia started having very brief seizures every night, which resulted in her pediatrician referring us to Arkansas Children's Hospital for an EEG and to have her global developmental delay evaluated. March 3, 2021. [gofundme.com]

• Profound Intellectual Disability

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

  Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. Most have delayed development of language skills as well as motor skills such as crawling and walking. [healthjade.net]

• Language Delays

  IQ scores range from mild disability to normal, but those in the normal range typically have other developmental issues such as language delay or autism spectrum disorder 61). [healthjade.net]

• Learning Difficulties

  Introduction About half of all people with a 15q13.3 microdeletion have learning difficulties or intellectual disability, which is usually mild or moderate. [encyclopedia.pub]

  Carriers with learning difficulties in childhood often function normally in adulthood. [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]

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]

(Outcomes/Resolutions) The prognosis of 15q13.3 Microdeletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms [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]

(Etiology) 15q13.3 Microdeletion Syndrome is caused by a deletion on the long arm of chromosome 15 that spans at least 7 genes and usually includes the CHRNA7 gene The condition can be inherited in an autosomal dominant manner with reduced penetrance, [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]

How can 15q13.3 Microdeletion Syndrome be Prevented? 15q13.3 Microdeletion Syndrome may not be preventable, since it is a genetic disorder, which may arise spontaneously or be inherited. [dovemed.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]

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]