DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms...

22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 22. 22q11...

hand, do not have the distinctive facial traits seen in the 22q11.2 microdeletion syndrome. Several examinations should be performed to determine the level...

22q11.2 duplication syndrome is a rare genetic disorder caused by a duplication of a segment at the end of chromosome 22. The most frequent reported symptoms...

Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which females cells have only one X chromosome or are partially missing an...

Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder...

syndromes. 1p36 deletion syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome 13q deletion syndrome 17q21.31 microdeletion syndrome 22q11.2 distal...

chromosome 16 on 16p11.2 (deletion: autism/duplication: schizophrenia), chromosome 22 on 22q11.21 (deletion (Velo-cardio-facial syndrome): schizophrenia/duplication:...

Syndromes caused by CNVs (e.g.: microdeletion 22q11.2 syndrome) Teratogens (e.g.: valproate aembryopathy) Syndromes recognized by genome-wide testing, not by...

Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens...

deletion (Wolf–Hirschhorn syndrome) 5p deletion (Cri-du-chat) 7q11.23 deletion (Williams syndrome) 22q11 deletion (DiGeorge syndrome) Single gene defects Smith–Lemli–Opitz...

C, García-Algas F, de la Fuente MA, et al. (June 2007). "Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility...

associated with 22q11.2 deletion syndrome. The C22orf25 gene is located on the long arm (q) of chromosome 22 in region 1, band 1, and sub-band 2 (22q11.21) starting...

include: Some cancers 1q21.1 deletion syndrome 5q- syndrome in myelodysplastic syndrome (MDS) 22q11.2 deletion syndrome CHARGE syndrome Cleidocranial dysostosis...

variation disorder is DiGeorge syndrome (22q11.2 deletion syndrome), followed by Prader-Willi syndrome and Angelman syndrome. Immune reactions during pregnancy...

chromosome 22 (22q11) and transcription activator BRG1/ATP-dependent chromatin remodeler (SMARCA4) located on the short arm of chromosome 19 (19p13.2). Considerable...

21078. PMC 4827602. PMID 25219761. Scambler, Peter J. (2000). "The 22q11 deletion syndromes". Human Molecular Genetics. 9 (16): 2421–2426. doi:10.1093/hmg/9...

CHD7 which can be mutated in CHARGE syndrome. Most cases of 22q11.2 deletion syndrome are caused by the deletion of a small piece of chromosome 22. This...

PMG such as 22q11.2 deletion (characterised by bilateral perisylvian PMG, heart defects, facial dysmorphism, microcephaly) and 1p36 deletion (bilateral...

with a 22q11.2 deletion". Schizophrenia Research. 143 (1): 55–59. doi:10.1016/j.schres.2012.10.010. PMID 23153825. S2CID 20964079. "Same DNA deletion paves...

shown that most cases of 22q11.2 deletion can be detected using SNP based NIPT/NIPS (Panorama) including smaller nested deletions whilst still maintaining...

have a 3–5% chance of developing congenital cardiac disease. If the 22q11 deletion is present, there is a 50% chance of transferring the damaged chromosome...

found in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in...

of kindness in all 50 states in order to raise awareness for 22q11.2 deletion syndrome. 1993: Random Kindness and Senseless Acts of Beauty, a 1993 children's...

in genetic deletions or duplication mutations and some have a specific mutation called 22q11 deletion syndrome, which accounts for up to 2% of cases....

chromosomal abnormalities, such as deletions on chromosomes 6 and 7, Trisomy 13, and Trisomy 21. About 25% of cases have a 22q11 microdeletion linked to it....

size of the deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome. Confirming...

the prevalence of fetal alcohol syndrome. A summary". Alcohol Res Health. 25 (3): 159–67. PMC 6707173. PMID 11810953. De Santis, Marco; Cesari, Elena; Cavaliere...

Understanding the Special Interest Areas of Children and Youth With Asperger Syndrome". Remedial and Special Education. 28 (3): 140–152. doi:10.1177/07419325070280030301...

years old. This is only the case for 5–8% of preschool children. Savant syndrome Nonverbal autism Language delay § Consequences of language delay Camarata...