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]

[…] uncommon) Urogenital anomalies (ambiguous genitalia in one male patient, but not in his father who also had the duplication; urethral stenosis, hypospadias, and hydronephrosis and cryptorchidism) Risk of Inheritance: Like any deletion or duplication present [c22c.org]

Overgrowth as a presenting symptom of the 22q11.2 duplication syndrome - a novel association. D. M. McDonald-McGinn 1, E. Bratton 1, K. Dickinson 1, A. Kohut 1, A. Bailey 1, A. Wilkens 1, I. Krantz 1, B. Emanuel 1, S. Saitta 2, M. Deardorff 1, E. H. [ashg.org]

• Broad Great Toe

  Patient 1S, sister of Patient 1, showing midface hypoplasia, broad great toes, bilateral fifth finger clinodactyly, and mildly broad fingertips. Patient 1M, mother of Patient 1, showing mildly upslanting palpebral fissures and preauricular pits. [doi.org]

• Broad Thumb

  (A), Patient 1 showing brachycephaly, midface hypoplasia, large protruding ears with pits, smooth philtrum, and slightly broad thumbs. [doi.org]

• Splenomegaly

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

  Table 5 Medical findings in 22q11.2DupS patients because of genetic testing ordered without indication of birth defect Endocrine 1/12 Hypothyroidism n  1 Gastrointestinal 2/12 Hepatomegaly n  1 Splenomegaly n  1 Hearing loss • Conductive • Mixed conductive [molecularautism.biomedcentral.com]

• Nasal Voice

  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 0009908 [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]

  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]

• 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]

• Bulbous Nose

  Oblique photograph of Patient 5, demonstrating midface flattening, deep-set eyes, a bulbous nose, and micrognathia. [doi.org]

• Chordee

  Urologic evaluation indicated the presence of an underdeveloped phallus with a penoscrotal meatus and severe chordee. [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]

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]

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]

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]

Conclusions: These findings highlight the unbiased ability of array-comparative genomic hybridization to identify genomic imbalances and further define the molecular etiology and clinical phenotypes seen in microduplication 22q11.2 syndrome. [doi.org]

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

All of these lines of work may help elucidate underlying biological mechanisms at work in ASDs from different etiologies. [molecularautism.biomedcentral.com]

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]

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

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]

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]

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]

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]

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