• Thumbnail for DiGeorge syndrome
    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...
    49 KB (5,271 words) - 23:49, 7 July 2024
  • Thumbnail for LZTR1
    uncontrollably. DiGeorge syndrome (known as 22q11.2 deletion) caused by a deletion in the 22nd chromosome. Some of the typical symptoms associated with DiGeorge Syndrome...
    9 KB (1,252 words) - 16:33, 22 November 2023
  • Thumbnail for Neural crest
    conditions such as frontonasal dysplasia, Waardenburg–Shah syndrome, and DiGeorge syndrome. Defining the mechanisms of neural crest development may reveal...
    41 KB (4,610 words) - 23:01, 30 October 2024
  • Thumbnail for Williams syndrome
    Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include...
    52 KB (5,760 words) - 22:31, 21 October 2024
  • Thumbnail for Omenn syndrome
    DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge syndrome. It is fatal without treatment. The symptoms are very similar to graft-versus-host...
    5 KB (515 words) - 14:37, 27 October 2023
  • Thumbnail for Microprocessor complex subunit DGCR8
    The microprocessor complex subunit DGCR8 (DiGeorge syndrome critical region 8) is a protein that in humans is encoded by the DGCR8 gene. In other animals...
    6 KB (744 words) - 12:45, 5 April 2024
  • syndrome Turner syndrome Noonan syndrome Patau syndrome DiGeorge syndrome Cri du chat syndrome Edwards syndrome Fragile X syndrome Okamoto syndrome It...
    4 KB (283 words) - 00:15, 31 January 2023
  • Thumbnail for Microdeletion syndrome
    deletion syndromes are detectable using karyotyping techniques. DiGeorge syndrome or velocardiofacial syndrome – most common microdeletion syndrome Prader–Willi...
    9 KB (930 words) - 05:41, 11 September 2023
  • Thumbnail for Angelo DiGeorge
    immunodeficiency now commonly referred to as DiGeorge syndrome. DiGeorge was the son of two Italian immigrants, Antonio DiGiorgio and his wife Emilia (née Taraborelli)...
    9 KB (966 words) - 18:36, 31 October 2024
  • Thumbnail for Turner syndrome
    Turner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which cells have only one X chromosome or are partially missing an...
    80 KB (9,487 words) - 08:05, 19 November 2024
  • Thumbnail for Fasoracetam
    well. In any case, it remains under development for treatment of DiGeorge syndrome. Fasoracetam appears to modulate and stimulate all three groups of...
    12 KB (900 words) - 08:36, 3 October 2024
  • Thumbnail for Hypertelorism
    variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz...
    10 KB (1,104 words) - 10:00, 2 June 2024
  • Thumbnail for Hypoplasia
    Klinefelter's syndrome Ovaries in Fanconi anemia, gonadal dysgenesis, trisomy X Thymus in DiGeorge syndrome Labia majora in popliteal pterygium syndrome Corpus...
    3 KB (270 words) - 01:46, 29 July 2024
  • certain immunodeficiencies, such as DiGeorge Syndrome. Thymus transplantation is used to treat infants with DiGeorge syndrome, which results in an absent or...
    7 KB (878 words) - 10:58, 19 April 2024
  • distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400)...
    8 KB (941 words) - 05:05, 12 December 2023
  • Sullivan KE (October 2007). "Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes". Lancet. 370 (9596): 1443–52. doi:10...
    7 KB (874 words) - 01:29, 30 July 2023
  • Thumbnail for Hemophagocytic lymphohistiocytosis
    disorders such as severe combined immunodeficiency, DiGeorge syndrome, Wiskott–Aldrich syndrome, ataxia–telangiectasia, and dyskeratosis congenita);...
    29 KB (3,306 words) - 22:34, 12 November 2024
  • Thumbnail for Down syndrome
    Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
    148 KB (14,786 words) - 23:22, 21 November 2024
  • cells of the thyroid to produce calcitonin. It may not develop in DiGeorge syndrome. The ultimopharyngeal body is a small organ of the neck. It is found...
    3 KB (340 words) - 14:20, 25 October 2023
  • RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...
    43 KB (995 words) - 08:29, 11 November 2024
  • Thumbnail for Pierre Robin sequence
    disorder or syndrome. Disorders associated with PRS include Stickler syndrome, DiGeorge syndrome, fetal alcohol syndrome, Treacher Collins syndrome, and Patau...
    22 KB (2,753 words) - 19:55, 23 August 2024
  • Thumbnail for Micrognathism
    enteropathy type DiGeorge syndrome Distal arthrogryposis types 2B1 and 5D DPAGT1-congenital disorder of glycosylation Dubowitz syndrome Dysosteosclerosis...
    14 KB (1,343 words) - 23:07, 16 October 2024
  • Thumbnail for Persistent truncus arteriosus
    studies) of cases are associated with chromosome 22q11 deletions (DiGeorge Syndrome). The neural crest, specifically a population known as the cardiac...
    14 KB (1,596 words) - 15:29, 8 November 2023
  • Bradlee, and journalist Sally Quinn. He was diagnosed in 1996 with DiGeorge syndrome. He attended The Lab School of Washington, and graduated from the...
    9 KB (627 words) - 14:49, 15 October 2024
  • Thumbnail for DGCR5
    In molecular biology, DiGeorge syndrome critical region gene 5 (non-protein coding), also known as DGCR5, is a long non-coding RNA. In humans, it is located...
    2 KB (211 words) - 22:36, 22 November 2020
  • chromosome 22q11 microdeletion syndrome (other names: DiGeorge syndrome, Schprintzen syndrome, velocardiofacial syndrome). Magnesium deficiency A defect...
    16 KB (1,629 words) - 21:56, 6 September 2024
  • Thumbnail for Special interest (autism)
    Understanding the Special Interest Areas of Children and Youth With Asperger Syndrome". Remedial and Special Education. 28 (3): 140–152. doi:10.1177/07419325070280030301...
    19 KB (1,952 words) - 13:03, 16 November 2024
  • Diencephalic syndrome Diffuse infiltrative lymphocytosis syndrome DiGeorge syndrome Diogenes syndrome Diploid-triploid mosaicism Disconnection syndrome Distal...
    42 KB (4,068 words) - 16:56, 1 November 2024
  • Thumbnail for Chromosome 22
    eye syndrome Chronic myeloid leukemia DiGeorge syndrome Desmoplastic small round cell tumor 22q11.2 distal deletion syndrome 22q13 deletion syndrome or...
    27 KB (2,209 words) - 17:18, 18 August 2024
  • Thumbnail for Deletion (genetics)
    including Angelman Syndrome, Prader-Willi Syndrome, and DiGeorge Syndrome. Some syndromes, including Angelman syndrome and Prader-Willi syndrome, are associated...
    14 KB (1,537 words) - 02:33, 14 May 2024