The Xq21.31 duplication was present in three brothers with TS including the proband, but not in an unaffected brother, whereas the 15q duplication was present only in the proband and his mother. [research.regionh.dk]

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

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]

Acknowledgments The author would like to thank the Clinical Cytogenetics laboratory for helping the collection of data presented here. The author is also grateful to the individuals included in this study as well as their families. [docksci.com]

• Disability

  A chromosome abnormality may be suspected if a child has feeding problems, developmental delay, intellectual disability, or behavioral problems. Genetic testing using chromosomal microarray (CMA) may confirm the diagnosis. [rarediseases.info.nih.gov]

• Developmental Delay

  A chromosome abnormality may be suspected if a child has feeding problems, developmental delay, intellectual disability, or behavioral problems. Genetic testing using chromosomal microarray (CMA) may confirm the diagnosis. [rarediseases.info.nih.gov]

• Epilepsy

  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 [medlineplus.gov]

  Features of the condition may include mild to moderate intellectual disabilities, learning delays, or normal intelligence; autism spectrum disorders; epilepsy (recurring seizures ); and mental illness (such as schizophrenia or bipolar disorder). [rarediseases.info.nih.gov]

  A recent study suggested that one per cent of people with epilepsy have a 15q13.3 microdeletion encompassing the CHRNA7 gene, making this microdeletion the most common identified genetic cause of epilepsy to date (Helbig 2009). [silo.tips]

• Feeding Difficulties

  difficulties, use of feeding tubes (temporary nasogastric or gastrostomy tubes), medications, feed thickeners, bottle-feeding expressed milk, including special diets and nutritional supplements A surgical procedure named fundoplication may be necessary [dovemed.com]

  Growth/feeding problems: Infants with this condition often have difficulty gaining weight. Some do no gain weight well because they have difficulty sucking and swallowing, while others may not grow well even though they are eating well. [healthjade.net]

  Two babies in the medical literature and two babies at Unique had feeding difficulties as newborns; one of whom went on to have a feeding tube (Sharp 2008, Spielman 2011; HoppmanChaney 2012; Unique). [silo.tips]

• Short Stature

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

  stature Decreased body height Small stature [ more ] 0004322 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 1%-4% of people have these symptoms Abnormality of the palpebral fissures Abnormality of the opening between the eyelids 0008050 Abnormality [rarediseases.info.nih.gov]

  She displayed dysmorphologic features including macrocephaly, short stature, short limbs, and black tongue (Figure 1D). She also exhibited mental retardation, hearing impairment, and an inability to speak. [docksci.com]

• Heart Disease

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

• Long Arm

  People with 15q13.3 microduplication syndrome have an extra piece of genetic information on the long arm (q arm) of chromosome 15. Some people with this duplication do not have any medical or behavioral problems. [rarediseases.info.nih.gov]

• 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]

  People with 7q11.23 duplication syndrome can have characteristic features of the head and face, including a large head (macrocephaly) that is flattened in the back (brachycephaly), a broad forehead, straight eyebrows, and deep-set eyes with long eyelashes [medlineplus.gov]

  She displayed dysmorphologic features including macrocephaly, short stature, short limbs, and black tongue (Figure 1D). She also exhibited mental retardation, hearing impairment, and an inability to speak. [docksci.com]

  […] expressive language typically more affected than receptive language) and abnormal speech articulation Learning difficulties/intellectual disability Social impairments with or without a diagnosis of autism spectrum disorder (autism spectrum disorder) Macrocephaly [healthjade.net]

• Decrease in Height

  […] 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 Cross-eyed Squint Squint [rarediseases.info.nih.gov]

• Broad Nasal Bridge

  Microcephaly was reported in 95% of patients, and all patients had straight eyebrows, deep-set eyes, midface hypoplasia, broad nasal root/bridge, long philtrum, and pointed chin. [healthjade.net]

• Abnormal Behavior

  […] of the palpebral fissures Abnormality of the opening between the eyelids 0008050 Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears Malformed ears [ more ] 0000377 Behavioral abnormality Behavioral changes Behavioral [rarediseases.info.nih.gov]

  None of the individuals had intellectual disability or behavioral abnormalities. [healthjade.net]

• Behavior Disorder

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

  Behavioral problems are common and mainly comprise poor attention span, hyperactivity, mood disorder, and aggressive and/or impulsive behavior. [healthjade.net]

• Hyperactivity

  Identification of rare copy number variations (CNVs) as susceptibility factors in several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), autism and schizophrenia, suggests involvement of these rare structural changes [research.regionh.dk]

  Other people may have developmental delay, intellectual disability, communication difficulties, behavioral and psychiatric problems (such as autistic features, emotional instability, attention-deficit hyperactivity disorder (ADHD), schizophrenia), feeding [rarediseases.info.nih.gov]

• Seizure

  Brain cysts may cause headache, nausea, and vomiting, along-with seizures Reduced quality of life Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.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]

  […] difficulties, behavioral and psychiatric problems (such as autistic features, emotional instability, attention-deficit hyperactivity disorder (ADHD), schizophrenia), feeding problems, difficulty sleeping (insomnia), low muscular tone (hypotonia ) and seizures [rarediseases.info.nih.gov]

• Behavior Problem

  Some people with this duplication do not have any medical or behavioral problems. [rarediseases.info.nih.gov]

• Insomnia

  […] delay, intellectual disability, communication difficulties, behavioral and psychiatric problems (such as autistic features, emotional instability, attention-deficit hyperactivity disorder (ADHD), schizophrenia), feeding problems, difficulty sleeping (insomnia [rarediseases.info.nih.gov]

• Language Delays

  Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med. 2005 Oct 20;353(16):1694-701. [medlineplus.gov]

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

  He doesn’t read but enjoys looking at books” – 24 years Speech and communication delay Speech and language delay is common in children with a 15q13.3 microdeletion Speech and language development was delayed in many, but not all, children but it is not [silo.tips]

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

Treatment options may include physical, occupational, and speech therapies, as well as medications to treat the specific problems seen in each person.[1] Last updated: 5/25/2018 [rarediseases.info.nih.gov]

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

Although it is widely accepted that genetic factors play a significant role in TS pathogenesis the etiology of this disorder is largely unknown. [research.regionh.dk]

Downloaded from cno.sagepub.com by guest on June 5, 2016 2 Child Neurology Open the author provides the first evidence for the involvement of microduplications at 15q13.3 encompassing CHRNA7 in the etiology of oral clefts. [docksci.com]

(Etiology) Chromosome 15q13.3 Microduplication Syndrome is caused by an extra copy of genetic material on the long arm (q) of chromosome 15, specifically at band location q13.3. [dovemed.com]

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

What is certain is that as a parent there is nothing you could have done to prevent this from happening. No environmental, dietary or lifestyle factors are known to cause 15q13.3 microdeletions. [silo.tips]

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]