22q11.2 Deletion: Causes & Reasons

Possible Causes for 22q11.2 Deletion

Aberration: Interstitial deletion Chromosomal Aneuploidy: 22q- Negative band Goodship J, Cross I, Scambler P, Burn J.: Monozygotic twins with chromosome 22q11 deletion and [ncbi.nlm.nih.gov]

Other anomalies were also found, hence it is not clear whether high resolution cytogenetic analysis will be cost effective.,Also see report of Mears et al (1994) under 22q112 [ncbi.nlm.nih.gov]

22q11.2 Duplication Syndrome

Studies say that about one in seven hundred people have this disorder. http://ghr.nlm.nih.gov/condition/22q112-duplication http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome [julsh2014.blogspot.com]

deletion-syndrome [portal.bsc.gwu.edu]

[…] search=22q11.2%20duplication&highlight=duplication%2022q112 22q11.2 distal deletion Developmental delays and learning disabilities are common in children with distal 22q11.2 [portal.bsc.gwu.edu]

Thymic Aplasia

deletion-syndrome (accessed on 7/24/2017) http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/22q112-deletion/ (accessed on 7/24/2017) http: [dovemed.com]

Email: president@vcfs22q.org.au Website: http://www.vcfsfa.org.au References and Information Sources used for Congenital Thymic Aplasia: https://ghr.nlm.nih.gov/condition/22q112 [dovemed.com]

Autosomal Dominant Mental Retardation Type 24

deletion-syndrome (accessed on 7/24/2017) http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/22q112-deletion/ (accessed on 7/24/2017) http: [dovemed.com]

[…] president@vcfs22q.org.au Website: http://www.vcfsfa.org.au References and Information Sources used for Autosomal Dominant Opitz G/BBB Syndrome: https://ghr.nlm.nih.gov/condition/22q112 [dovemed.com]

Steel Syndrome

There's a good review at http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome ...Read more 20 What is the cause of edward's syndrome? [healthtap.com]

DiGeorge and velocardialfacial syndrome patients may have deletions here. [healthtap.com]

Highly variable: This is fairly common and quite variable clinically depending on the extent of the deletion. [healthtap.com]

Eyebrow Duplication - Syndactyly Syndrome

deletion-syndrome [portal.bsc.gwu.edu]

[…] corners of the eyes ( epicanthal folds ). http://www.rarechromo.org/information/Chromosome%2022/22q11.2%20microduplications%20FTNP.pdf https://ghr.nlm.nih.gov/condition/22q112 [portal.bsc.gwu.edu]

Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

Etiology The majority of individuals with phenotypic features of DiGeorge syndrome have a mirror-deletion on chromosome 22q112, which is typically detected by FISH testing [dermatologyadvisor.com]

The remaining 5% have a smaller, atypical 22111.2 deletion or some other chomosomal rearrangement in this region, detectable only by microarray analysis. [dermatologyadvisor.com]

DiGeorge Syndrome

National Library of Medicine. http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome [10] Morcel, K., Watrin, T., Pasquier, L., et al. (2011). [oncofertility.northwestern.edu]

Clin Genet 2005; 68: 373–78. [9] 22q11.2 deletion syndrome. (2013). U.S. [oncofertility.northwestern.edu]

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. [oncofertility.northwestern.edu]

3q29 Microdeletion

deletion-syndrome [portal.bsc.gwu.edu]

Verheij Syndrome

Syndrome Consortium (2011) Practical guidelines for managing patients with 22q112 deletion syndrome. [springermedizin.de]

Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J, International 22q11.2 Deletion [springermedizin.de]

7q11.23 Duplication Syndrome

deletion-syndrome [portal.bsc.gwu.edu]

Myopia Type 22

Penetrance Penetrance is complete in individuals with deletion 22q112 detected by FISH; variability is marked. Anticipation To date, anticipation has not been observed. [22q.org]

Nomenclature It is now recognized that the 22q11.2 deletion syndrome encompasses the phenotypes previously called DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS) [22q.org]

Velocardiofacial Syndrome

Etiology The majority of individuals with phenotypic features of DiGeorge syndrome have a mirror-deletion on chromosome 22q112, which is typically detected by FISH testing [clinicaladvisor.com]

The remaining 5% have a smaller, atypical 22111.2 deletion or some other chomosomal rearrangement in this region, detectable only by microarray analysis. [clinicaladvisor.com]