Molecular analysis based on 15 short tandem repeats confirmed the size of the duplications and indicated that at least 1 of 15 loci has three alleles present. [ncbi.nlm.nih.gov]

These individuals present with nearly the same spectrum of findings as those individuals with the standard deletion. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. [rarediseases.org]

Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery [icd10data.com]

• Pathologist

  By age 2, a speech and language pathologist (SLP) will regularly check your child’s ability to make speech sounds. Our team will continue to check your child’s speech as they grow. [seattlechildrens.org]

  Back to top Communication Issues and 22q11 DS 22q DS: A Guide for Speech and Language Pathologists by Paula Klaiman, Speech and Language Pathologist 22q Deletion Syndrome is a genetic condition with an incidence of approximately 1 in 4,000. [sickkids.ca]

  Albert Einstein College of Medicine, Bronx, NY, USA Edward Moss, Neuropsychologist, Private Practice, Bryn Mawr, PA, USA Sólveig Óskarsdóttir, Consultant in Pediatrics, The Queen Silvia Children’s Hospital, Gothenburg, Sweden Christina Persson, Speech Pathologist [perrysburghearingcenter.com]

  Your child should also see a speech and language pathologist who can also assess your child’s speech, language and — if she's young — feeding. [chop.edu]

• Epilepsy

  Epilepsy Twelve children within the Unique population (a rare chromosomal disorder support group) have been diagnosed with epilepsy, which is a condition where abnormal electrical activity in the brain can cause unpredictable seizures and other health [thinkgenetic.com]

  A case report and review of the literature, Epilepsy & Behavior, 25, 4, (567), (2012). James D. Weisfeld-Adams, Lisa Edelmann, Inder K. [doi.org]

  The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication. American Journal of Medical Genetics Part A, Vol. 155, Issue. 12, p. 3054. CrossRef Google Scholar Tomita-Mitchell, Aoy Mahnke, Donna K. Larson, Joshua M. [cambridge.org]

  1p36.33 deletion 1p36.22 deletion 1p36 deletion 1p36.33p36.23 deletion 1p36 deletion DUPLICATIONS Q Arm 1q 21.1 1q21.1 microduplication 1q25.1 1q21.1 1q32.2 dup 1q43 DELETIONS Q Arm 2q14 to 2q14.3. 2q23.1 deletion (autism, global developmental delays and epilepsy [arcan.org.au]

• Dentist

  Some teams also have growth specialists and dentists who monitor face, jaw and tooth growth. Ear, nose and throat and audiology This evaluation may be part of the cleft palate team evaluation. [chop.edu]

  A geneticist, pediatrician, cardiologist, immunologist, endocrinologist, gastroenterologist, otolaryngologist, plastic surgeon, speech pathologist, audiologist, orthodontist, dentist, urologist/nephrologist, orthopedist, child development specialist, [rarediseases.org]

• Wound Infection

  especially when a child is very young Wound infections/wounds that won't heal properly Recurring respiratory infections Autoimmune diseases, such as juvenile rheumatoid arthritis, idiopathic thrombocytopenia and vitiligo Growth problems Sometimes as [chop.edu]

• Inguinal Hernia

  At just 4 months old, Aidan had surgery to repair an inguinal hernia, a bulge in the abdominal muscles. [foxnews.com]

  hernia, anal fistula, and hypomyotonia ( Table 1 ). [journals.plos.org]

• Nasal Voice

  […] speech Nasal voice 0001611 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 5%-29% of people have these symptoms Abnormality of immune system physiology 0010978 Anterior creases of earlobe Earlobe crease [rarediseases.info.nih.gov]

• Failure to Thrive

  Some babies and children with 22q11.2 duplication are diagnosed with "failure to thrive" which means that they are not gaining weight at the expected rate, regardless of how much food they eat. [thinkgenetic.com]

  […] to thrive (ie, poor growth) in about half of reported probands Velopharyngeal insufficiency/hypernasal speech/cleft palate Absent thymus in one patient (Ensenauer 2003) Asplenia in one patient (Ensenauer 2003) Heart defects: In Ensenauer 2003, 2/12 of [c22c.org]

  Patient 4 is a 3-year-old female child with failure to thrive, speech delay, hypernasal speech, dysmorphic features, and splenomegaly. [doi.org]

  While some palatal abnormalities that occur with 22q11.2 deletion syndrome are obvious, such as cleft palate, others can go undetected and lead to feeding difficulties and failure to thrive. Congenital heart defects. [natera.com]

  Group 2 1. del(2)(q13q13): a Group 2 deletion of 1.62 Mb from the proximal long arm of chromosome 2 between base pairs 111,155,700 to 112,776,503 was ascertained in a boy with birth asphyxia and failure to thrive at 6 months of age (Family 3 in Bisgaard [ngrl.org.uk]

• Long Arm

  Based on their shape, chromosomes are said to have two "arms", a short arm called "p" and a long arm called "q". Having 22q11.2 duplication does not mean you have a medical condition. [thinkgenetic.com]

  These extend over 8 Mb of the short arm as far as 9p13.1 and over 4 Mb of the long arm region as far as 9q12.12. Multiple smaller copy number variations have been found within these regions in normal individuals. [ngrl.org.uk]

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 22q11” refers to band 11 on the long arm of chromosome 22. [rarediseases.org]

  Chromosomes are also divided into two parts called "arms." The top half is the short or "p" arm and the bottom half is called the long or "q" arm. When a baby is conceived with either too much or too little genetic material, birth defects can occur. [chop.edu]

• Arthritis

  They have recurrent infections caused by weakened immune system, and can develop autoimmune diseases such as rheumatoid arthritis and greaves disease in which the immune system attacks cells. [julsh2014.blogspot.com]

  In addition, some children develop autoimmune diseases related to their immune deficiency, such as juvenile rheumatoid arthritis, idiopathic thrombocytopenia, vitiligo and Graves’ disease. [chop.edu]

• Hearing Impairment

  Lundin, Johanna, et al. "22q11. 2 microduplication in two patients with bladder exstrophy and hearing impairment." European journal of medical genetics 53.2 (2010): 61-65. Motavalli Mukaddes, Nahit, and Sabri Herguner. [thinkgenetic.com]

  impairment Deafness Hearing defect [ more ] 0000365 Hydronephrosis 0000126 Hypoplastic left heart Underdeveloped left heart 0004383 Interrupted aortic arch 0011611 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size [rarediseases.info.nih.gov]

  Johanna Lundin, Cilla Söderhäll, Lina Lundén, Anna Hammarsjö, Iréne White, Jacqueline Schoumans, Göran Läckgren, Christina Clementson Kockum and Agneta Nordenskjöld, 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment [doi.org]

• Anxiety Disorder

  Behavioral and psychiatric problems may include autism spectrum disorder, anxiety disorder, depression, schizophrenia, bipolar disorder, or other mental health problems. [portal.bsc.gwu.edu]

  Although psychotic disorders are chronic in most cases, they can also be transient. Anxiety disorders are a major risk factor for psychosis in patients with 22q11DS. [dovepress.com]

  Hypocalcemia 55 64 Genitourinary anomalies 24 41 Autism spectrum disorder 19 16 ADHD 32–52 16–35 Anxiety disorder ~35 25 Psychotic disorder 15 40–58 Schizophrenia 2 ~25 The syndrome has been identified in the majority of individuals with DiGeorge syndrome [pubs.asha.org]

• Seizure

  It can also cause kidney abnormalities, breathing problems, low levels of calcium (which can cause seizures), decrease in blood platelets, hearing loss, gastrointestinal problems, feeding difficulties, and skeletal problems with the spine. [julsh2014.blogspot.com]

  Seizures occur in about half of individuals. [portal.bsc.gwu.edu]

  Seizure 0001250 Smooth philtrum 0000319 Stereotypy Repetitive movements Repetitive or self-injurious behavior [ more ] 0000733 Tetralogy of Fallot 0001636 Transposition of the great arteries 0001669 Urethral stenosis Narrowing of the urethra 0008661 [rarediseases.info.nih.gov]

  Another common condition is hypocalcemia, or low calcium levels that can cause seizures and long-term health problems. [foxnews.com]

  Epilepsy Twelve children within the Unique population (a rare chromosomal disorder support group) have been diagnosed with epilepsy, which is a condition where abnormal electrical activity in the brain can cause unpredictable seizures and other health [thinkgenetic.com]

• Global Developmental Delay

  These syndromes are manifested by the presence of growth deficiency, global developmental delay, heart defect, and hearing loss. The major birth defects include palatal clefting or insufficiency and thymus aplasia. [mayomedicallaboratories.com]

  developmental delays and epilepsy 2q24.2-32.2 deletion 2q37.3 deletion Duplication at 2q37.3 of 2.3 mb and a deletion2q37.3 of 2.4 mb P Arm 2p16.3 deletion DUPLICATIONS Q Arm 2q37.3 duplication DELETIONS P Arm 3p21 Microduplication 3 p26.3-p26.2 Deletion [arcan.org.au]

  Prominent eye folds [ more ] 0000286 Global developmental delay 0001263 High forehead 0000348 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific [rarediseases.info.nih.gov]

  The degree of developmental delay varied from mild global developmental delay to isolated speech delay or normal cognition. [doi.org]

When outer ear abnormalities are encountered, an additional workup including audiometry and computed tomography with 3-D reconstructions is required. [journals.lww.com]

Preoperative Medical Evaluation A comprehensive preoperative workup, including cardiac and airway factors, assessment of cervical spine stability, and carotid artery position, is paramount (Kirschner & Baylis, 2014). [pubs.asha.org]

Treatments may range from heart surgery to educational program tailored for an individual's needs. [thinkgenetic.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

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]

Treatment for 22q11.2 deletion syndrome varies depending on your child’s symptoms. Because your child’s genetic makeup can't be changed, doctors can't "cure" the 22q11.2 deletion. [chop.edu]

Genetic services offer families who have experienced a birth problem (including the 22q11.2 deletion) valuable information, including: Information about the problem's cause Your chances of having another child with the same problem Information about prognosis [chop.edu]

Some features not presenting at birth may have a late onset; thus, an early identification can lead to more effective therapeutic regimen with better prognosis [15]. [journals.plos.org]

Elsevier Health Sciences, ١٨‏/٠٨‏/٢٠١٣ - 979 من الصفحات Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders [books.google.com]

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992 ; 50 : 924 – 933. Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genome disorders. Trends Genet 2002 ; 18 : 74. [cambridge.org]

But maternal age does not act as an etiologic factor for the finding of enhanced maternal origin of the deletion. [dovepress.com]

Moreover, a small number of VCFS-like cases harboring a microduplication on 22q11.2 or CNVs on other chromosomes (4q, 8p, 10p, and 17p), such as partial monosomies and trisomies, have also been reported as etiologic heterogeneity that causes clinical [journals.plos.org]

Proposed etiologies include chronotropic impairment, cardiovascular limitations, restrictive pulmonary function and more recently, deficient habitual exercise.22,31–34 In our cohort, maximal heart rate was not associated with mVO2, measures of cardiac [ahajournals.org]

Thus, little is known of the clinical and epidemiological consequences at the population level, including the clinical manifestations and disease trajectories. [newsroom.au.dk]

Hoeffding and Werge said by email that the study "offers an example of the power of merging nationwide records of clinical genomics analyses performed over several decades with unbiased, population-wide, register epidemiology in a country where healthcare [psychcongress.com]

A population-based study of epidemiology, associated malformations and survival in western Denmark 1984-1992.Scand Cardiovasc J. 1999; 33:45–48.CrossrefMedlineGoogle Scholar 7. [ahajournals.org]

22q11DS. 25 Several other genes in the 22q11 region, such as histone cell cycle regulator gene ( HIRA ), ubiquitin fusion degradation 1-like gene ( UFD1L ), and Crk-like protein gene ( CRKL ), have been implicated in the pathogenesis of 22q11DS. 7, 19 Epidemiology [dovepress.com]

In the absence of an epidemiological sample, the absolute rate of ASD in different disorders must be interpreted with caution and attention to the sampling and assessment methods that were used to determine the prevalence. [molecularautism.biomedcentral.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test The 22q deletion syndrome and 22q duplication syndrome have overlapping phenotypes. [mayomedicallaboratories.com]

Parent Training and Caregiver Consultation Suggestions specific to 22q Deletion Syndrome: Prevent the establishment of compensatory articulation substitutions, particularly glottal stops. [sickkids.ca]

Rarely, children need to take antibiotics or other treatments to prevent infection. Need extra doses of vaccines to build enough protection against disease. [seattlechildrens.org]

[…] deletion15 and strong association with fetal loss (stillbirths and miscarriages).34,35 In addition, because of restrictions related to de-identified dried blood spot samples set by the research ethics boards, minimal clinical data were available, which prevented [cmajopen.ca]

In addition, the technical limitations of testing by fluorescence in situ hybridization (FISH) may prevent the identification of many affected individuals in that duplications may only be visualized by FISH using interphase cells. [doi.org]

Centers for Disease Control and Prevention. Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ. 2014;63:1–21. [molecularautism.biomedcentral.com]