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]

Regardless if the deletion or duplication is present, no two affected people are ever exactly alike, and not every person with the deletion or duplication is affected in the same way. [perrysburghearingcenter.com]

• 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]

• 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

  […] 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]

  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]

  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]

• Widely Spaced Teeth

  This may be due to a number of problems, such as unusual development of the teeth and/or jaw, which can lead to overcrowding or widely spaced teeth. [thinkgenetic.com]

• Lordosis

  ( n = 2); Lithiasis; Nephromegaly; Megaureter Renal ultrasound: n = 95; 23 % abnormal Skeletal C-Spine x-rays: n = 11 C-spine anomaly 45 % (5/11) Slightly large atlantodens interval; Hypoplastic PE of C1 and elongated PE of C2; Exaggerated kyphosis, lordosis [molecularautism.biomedcentral.com]

• Floppy Muscle

  Having 22q11 duplication syndrome or extra genetic material on the long arm of chromosome 22 can cause changes in the formation of the heart leading to heart defects, to weak or "floppy" muscle tone (hypotonia), problems developing the roof of the mouth [thinkgenetic.com]

• 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]

  MRI was normal but urinary tract infections, seizures, psychomotor delay, behavioural problems, hearing impairment, hypermetropia and dysmorphic features were later recorded (Family 1 in Bisgaard et al, Eur J Med Genet 2007;50:243-55). [ngrl.org.uk]

  Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, et al. (2010) 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. Eur J Med Genet 53: 61–65. View Article Google Scholar 26. [journals.plos.org]

• Normal Hearing

  Hearing Loss While most individuals with 22q11.2 duplication syndrome have normal hearing, a significant number have some hearing loss. [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]

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]

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results. Prenat Diagn. 2017 Apr;37(4):416–9. Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmermann B, Sigurjonsson S, et al. [karger.com]

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]

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]

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]

Early intervention should focus on developing strategies for expressive communication and the prevention or remediation of compensatory articulation patterns. [pubs.asha.org]