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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/28 20:12:38」(JST)

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22q11.2 deletion syndrome,^[2] which has several presentations including DiGeorge syndrome (DGS),^[3] DiGeorge anomaly,^[4]^[5] velocardiofacial syndrome, Shprintzen syndrome,^[6] conotruncal anomaly face syndrome or Takao syndrome,^[7] Strong syndrome, congenital thymic aplasia, and thymic hypoplasia, is a syndrome caused by the deletion of a small piece of chromosome 22. It is the commonest microdeletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chromosome at a location designated 22q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2.^[8] The inheritance pattern is autosomal dominant and it has a prevalence estimated at 1:4000.^[9] The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge.^[10]^[11] 22q11 deletion is also associated with truncus arteriosus and tetralogy of Fallot.^[12]

Presentation

The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velopharyngeal insufficiency), learning disabilities, mild differences in facial features, and recurrent infections. Infections are common in children due to problems with the immune system's T-cell-mediated response that in some patients is due to an absent or hypoplastic thymus. 22q11.2 deletion syndrome may be first spotted when an affected newborn has heart defects or convulsions from hypocalcemia due to malfunctioning parathyroid glands and low levels of parathyroid hormone (parathormone). Affected individuals may also have any other kind of birth defect including kidney abnormalities and significant feeding difficulties as babies. Disorders such as hypothyroidism and hypoparathyroidism or thrombocytopenia (low platelet levels), and psychiatric illnesses are common late-occurring features.^[13]

Microdeletions in chromosomal region 22q11.2 are associated with a 20 to 30-fold increased risk of schizophrenia.^{[unreliable medical source?]}^[14] Studies provide various rates of 22q11.2 deletion syndrome in schizophrenia, ranging from 0.5 to 2.0% and averaging about 1.0%, compared with the overall estimated 0.025% risk of the 22q11.2 deletion syndrome in the general population.^{[unreliable medical source?]} ^[15]

Salient features can be summarized using the mnemonic CATCH-22 to describe DiGeorge syndrome, with the 22 to remind one the chromosomal abnormality is found on the 22 chromosome, as below:^[16]

Cardiac abnormality (especially tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/Hypoparathyroidism

Nomenclature

The signs and symptoms of 22q11 deletion syndrome are so varied that different groupings of its features were once regarded as separate conditions. These original classifications included velocardiofacial syndrome, Shprintzen syndrome, DiGeorge sequence/syndrome, Sedlackova syndrome, and conotruncal anomaly face syndrome. All are now understood to be presentations of a single syndrome.

Symptoms

Individuals with a 22q11.2 deletion can suffer from many possible features, ranging in number of associated features and from the mild to the very serious. Symptoms shown to be common include:

Congenital heart disease (40% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and persistent truncus arteriosus)
Cyanosis (bluish skin due to poor circulation of oxygen-rich blood)
Palatal abnormalities (50%), particularly velopharyngeal incompetence, submucosal cleft palate, and cleft palate; characteristic facial features (present in the majority of Caucasian individuals) including hypertelorism
Learning difficulties (90%), including cognitive deficits, attention deficit disorders^[17]
Hypocalcemia (50%)(due to hypoparathyroidism)
Significant feeding problems (30%)
Renal anomalies (37%)
Hearing loss (both conductive and sensorineural) (hearing loss with craniofacial syndromes)
Laryngotracheoesophageal anomalies
Growth hormone deficiency
Autoimmune disorders
Immune disorders due to reduced T cell numbers
Seizures (with or without hypocalcemia)
Skeletal abnormalities
Psychiatric disorders^[17]

This syndrome is characterized by incomplete penetrance and therefore there is a marked variability in clinical expression between the different patients. This often makes early diagnosis difficult.^[18]

Cause

The syndrome is caused by genetic deletions (loss of a small part of the genetic material) found on the long arm of one of the two 22nd chromosomes. Very rarely, patients with somewhat similar clinical features may have deletions on the short arm of chromosome 10.

The mechanism that causes all of the associated features of the syndrome is unknown. 22q11.2 deletion syndrome may involve migration defects of neural crest-derived tissues, particularly affecting development of the third and fourth branchial pouches (pharyngeal pouches). This affects the thymus gland, a mediastinal organ largely responsible for differentiation and induction of tolerance in T-cells, and the parathyroid glands, responsible for regulation of blood calcium levels.^[19]

Treatment

No cure is known for 22q11.2 deletion syndrome. Certain individual features are treatable using standard treatments. The key is to identify each of the associated features and manage each using the best available treatments.

For example, in children, it is important that the immune problems are identified early, as special precautions are required regarding blood transfusion and immunization with live vaccines. Thymus transplantation can be used to address absence of the thymus in the rare, so-called "complete" DiGeorge syndrome.^[20] Bacterial infections are treated with antibiotics. Cardiac surgery is often required for congenital heart abnormalities. Hypoparathyroidism causing hypocalcaemia often requires lifelong vitamin D and calcium supplements.

Diagnosis and testing

The 22q11.2 deletion syndrome is diagnosed in individuals with a submicroscopic deletion of chromosome 22 detected by fluorescence in situ hybridization (FISH), BACs-on-Beads technology, Multiplex ligation-dependent probe amplification (MLPA) or array-comparative genomic hybridization (array-CGH). FISH is done on a blood sample: one DNA probe from the 22q11.2 chromosomal region is used at a time, while with BACs-on-Beads technology, multiple probes from the 22q11.2 region can be used simultaneously. In MLPA testing, various probes for selected regions of 22q11.2 are used to identify microdeletions,^[21] but any findings should be further confirmed by other techniques (FISH or array-CGH). Array-CGH is a technique of molecular karyotype where a large number of probes are embedded in a chip to screen the entire genome for deletions or duplications. Array-CGH can identify the extent of the microdeletion in 22q11.2 chromosomal region and characterize any missing genes, leading to a better evaluation of signs, symptoms, and prognosis of the syndrome. Such genetic testing is widely available for the clinical and prenatal testing of the 22q11.2 deletion syndrome. Fewer than 5% of individuals with clinical symptoms of the 22q11.2 deletion syndrome have normal routine cytogenetic studies and negative FISH testing. Some cases of DiGeorge syndrome have defects in other chromosomes, notably a deletion in chromosome region 10p14. They may have variant deletions of DiGeorge syndrome that may be detectable on a research basis only or with other more advanced clinical testing method.

Genetics

22q11.2 deletion syndrome is inherited in an autosomal dominant pattern.

Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in every cell of their body. This region contains about 45 genes, but some of these genes have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region.

Researchers have not yet identified the genes that contribute to the features of 22q11.2 deletion syndrome. They have determined that the loss of one particular gene on chromosome 22, TBX1, is probably responsible for some of the syndrome's characteristic signs (such as heart defects). Carrying only one copy of this gene does not appear to cause learning disabilities, however. Additional genes in the deleted region are likely to contribute to the signs and symptoms of 22q11.2 deletion syndrome and genes outside the 22q11.2 region may also play a role.

The 22q11.2 deletion syndrome can be inherited, but this is the case in the minority of newly diagnosed individuals. Only 5–10% have inherited the 22q11.2 deletion from a parent, whereas about 90–95% of cases have a de novo (new to the family) deletion of 22q11.2. This is because the 22q11.2 region has a structure that makes it highly prone to rearrangements during sperm or egg formation. The deletion is almost equally likely to occur when an egg is formed as when a sperm is formed. The deletion follows standard Mendelian inheritance, so individuals carrying the deletion 22q11.2 have a 50% (one in two) chance of passing it to their offspring. Prenatal testing, such as amniocentesis, is available for pregnancies determined to be at risk. Also, pregnancies with findings of congenital heart disease and/or palate anomalies detected by ultrasound examination may be offered prenatal testing for 22q11.2 deletion syndrome. Because most of the signs of this cluster of defects can also be inherited as autosomal recessive or X-linked traits, only genetic testing of both parents can determine with any certainty the likelihood of these anomalies occurring in any subsequent children.

Epidemiology

22q11.2 deletion syndrome affects between one in 2000 and one in 4000 live births.^[9] This estimate is based on major birth defects and may be an underestimate, because some individuals with the deletion have few symptoms and may not have been formally diagnosed.

It is one of the most common causes of mental retardation due to a genetic deletion syndrome.^[22]

Cognitive and language problems

Cognitive impairments

Children with 22q11.2 have a specific profile in neuropsychological tests. They usually have a below- borderline normal IQ, with most individuals having higher scores in the verbal than the nonverbal domains. Some are able to attend normal schools, while others are home-schooled or in special classes.The severity of hypocalcemia early in childhood is associated with autism-like behavioral difficulties.^[23]

Adults with DiGeorge syndrome have a specifically high-risk group for developing schizophrenia. About 30% have at least one incident of psychosis and about a quarter develop actual schizophrenia.^[24]

Speech and language

Current research demonstrates a unique profile of speech and language impairments is associated with 22q11.2 deletion syndrome. Children often perform lower on speech and language evaluations in comparison to their nonverbal IQ scores.^{[contradictory]} Common problems include hypernasality, language delays, and speech sound errors.^[25]^[26]^[27]

Hypernasality occurs when air escapes through the nose during the production of oral speech sounds, resulting in reduced intelligibility. This is a common characteristic in the speech and language profile because 69% of children have palatal abnormalities. If the structure of the soft palate velum is such that it does not stop the flow of air from going up to the nasal cavity, it will cause hypernasal speech. This phenomenon is referred as velopharyngeal inadequacy (VPI). Hearing loss can also contribute to increased hypernasality because children with hearing impairments can have difficulty self monitoring their oral speech output. The treatment options available for VPI include prosthesis and surgery.^[25]^[26]^[28]^[29]^[30]

Difficulties acquiring vocabulary and formulating spoken language (expressive language deficits) at the onset of language development are also part of the speech and language profile associated with the 22q11.2 deletion. Vocabulary acquisition is often severely delayed for preschool-age children. In some recent studies, children had a severely limited vocabulary or were still not verbal at 2–3 years of age. School-age children do make progress with expressive language as they mature, but many continue to have delays and demonstrate difficulty when presented with language tasks such as verbally recalling narratives and producing longer and more complex sentences. Receptive language, which is the ability to comprehend, retain, or process spoken language, can also be impaired, although not usually with the same severity as expressive language impairments.^[26]^[29]^[30]^[31]

Articulation errors are commonly present in children with 22q11.2 deletion syndrome. These errors include a limited phonemic (speech sound) inventory and the use of compensatory articulation strategies resulting in reduced intelligibility. The phonemic inventory typically produced consists of sounds made in the front or back of the oral cavity such as: /p/, /w/, /m/, /n/, and glottal stops. Sound made in the middle of the mouth are completely absent. Compensatory articulation errors made by this population of children include: glottal stops, nasal substitutions, pharyngeal fricatives, linguapalatal sibilants, reduced pressure on consonant sounds, or a combination of these symptoms. Of these errors, glottal stops have the highest frequency of occurrence. It is reasoned that a limited phonemic inventory and the use of compensatory articulation strategies is present due to the structural abnormalities of the palate. The speech impairments exhibited by this population are more severe during the younger ages and show a trend of gradual improvement as the child matures.^[25]^[29]

References

^ Tonelli AR, Kosuri K, Wei S, Chick D (2007). "Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report". J Med Case Reports 1: 167. doi:10.1186/1752-1947-1-167. PMC 2222674. PMID 18053182.
^ Swillen, A.; Vogels, A.; Devriendt, K.; Fryns, J. P. (undefined NaN). "Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications". American Journal of Medical Genetics 97 (2): 128–135. doi:10.1002/1096-8628(200022)97:2<128::AID-AJMG4>3.0.CO;2-Z. Check date values in: |date= (help)
^ Cooper, Max D.; Peterson, Raymond D.A.; Good, Robert A. (November 1965). "A new concept of the cellular basis of immunity". The Journal of Pediatrics 67 (5): 907–908. doi:10.1016/S0022-3476(65)81796-6.
^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ Shprintzen, RJ; Goldberg, RB; Lewin, ML; Sidoti, EJ; Berkman, MD; Argamaso, RV; Young, D (January 1978). "A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.". The Cleft palate journal 15 (1): 56–62. PMID 272242.
^ Burn, J; Takao, A; Wilson, D; Cross, I; Momma, K; Wadey, R; Scambler, P; Goodship, J (October 1993). "Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.". Journal of medical genetics 30 (10): 822–4. doi:10.1136/jmg.30.10.822. PMC 1016562. PMID 8230157.
^ Shaikh, TH; Kurahashi, H; Saitta, SC; O'Hare, AM; Hu, P; Roe, BA; Driscoll, DA; McDonald-McGinn, DM; Zackai, EH; Budarf, ML; Emanuel, BS (1 March 2000). "Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.". Human molecular genetics 9 (4): 489–501. doi:10.1093/hmg/9.4.489. PMID 10699172.
^ ^a ^b Oskarsdóttir S, Vujic M, Fasth A (2004). "Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden". Arch. Dis. Child. 89 (2): 148–51. doi:10.1136/adc.2003.026880. PMC 1719787. PMID 14736631.
^ DiGeorge AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. IV(1). White Plains, NY: March of Dimes-Birth Defects Foundation; 1968:116-21
^ Restivo, Angelo; Sarkozy, Anna; Digilio, Maria Cristina; Dallapiccola, Bruno; Marino, Bruno (February 2006). "22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system.". Journal of Cardiovascular Medicine 7 (2): 77–85. doi:10.2459/01.JCM.0000203848.90267.3e. PMID 16645366.
^ Arthur J. Moss, Hugh D. Allen (16 October 2007). Moss and Adams' Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult, Volume 1. Lippincott Williams & Wilkins. Truncus arteriosus communis associated with chromosome 22ql 1 deletion.
^ Debbané M, Glaser B, David MK, Feinstein C, Eliez S (2006). "Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications". Schizophr. Res. 84 (2–3): 187–93. doi:10.1016/j.schres.2006.01.019. PMID 16545541.
^ ^{[non-primary source needed]} Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R (2003). "The schizophrenia phenotype in 22q11 deletion syndrome". Am J Psychiatry 160 (9): 1580–6. doi:10.1176/appi.ajp.160.9.1580. PMC 3276594. PMID 12944331.
^ ^{[non-primary source needed]} Horowitz A, Shifman S, Rivlin N, Pisanté A, Darvasi A (2005). "A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients". Schizophr. Res. 73 (2–3): 263–7. doi:10.1016/j.schres.2004.02.008. PMID 15653270.
^ Burn J (October 1999). "Closing time for CATCH22". J. Med. Genet. 36 (10): 737–8. doi:10.1136/jmg.36.10.737. PMC 1734243. PMID 10528851.
^ ^a ^b Lindsay, EA (November 2001). "Chromosomal microdeletions: dissecting del22q11 syndrome.". Nature reviews. Genetics 2 (11): 858–68. doi:10.1038/35098574. PMID 11715041.
^ Swillen, A; Vogels, A; Devriendt, K; Fryns, JP (1999). "Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications.". American journal of medical genetics 97 (2): 128–35. doi:10.1002/1096-8628(200022)97:2<128::AID-AJMG4>3.0.CO;2-Z. PMID 11180220.
^ Online 'Mendelian Inheritance in Man' (OMIM) DiGeorge syndrome; DGS -188400
^ Markert ML, Devlin BH, Alexieff MJ (2007). "Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants". Blood 109 (10): 4539–47. doi:10.1182/blood-2006-10-048652. PMC 1885498. PMID 17284531.
^ Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS (March 2008). "Detailed analysis of 22q11.2 with a high density MLPA probe set". Hum Mutat 29 (3): 433–440. doi:10.1002/humu.20640. PMC 2664158. PMID 18033723.
^ Daily DK, Ardinger HH, Holmes GE (February 2000). "Identification and evaluation of mental retardation". Am Fam Physician 61 (4): 1059–67, 1070. PMID 10706158.
^ Muldoon et al. (2014) doi:10.1007/s00406-014-0546-0 PMID 25267002
^ Zinkstok J, van Amelsvoort T (2005). "Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review". Child Neuropsychol 11 (1): 21–37. doi:10.1080/09297040590911194. PMID 15823981.
^ ^a ^b ^c D'Antonio LL, Scherer NJ, Miller LL, Kalbfleisch JH, Bartley JA (2001). "Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS". Cleft Palate Craniofac. J. 38 (5): 455–67. doi:10.1597/1545-1569(2001)038<0455:AOSCIC>2.0.CO;2. ISSN 1545-1569. PMID 11522167.
^ ^a ^b ^c Scherer NJ, D'Antonio LL, Kalbfleisch JH (1999). "Early speech and language development in children with velocardiofacial syndrome". Am. J. Med. Genet. 88 (6): 714–23. doi:10.1002/(SICI)1096-8628(19991215)88:6<714::AID-AJMG24>3.0.CO;2-B. PMID 10581495.
^ Scherer NJ, D'Antonio LL, Rodgers JR (2001). "Profiles of communication disorder in children with velocardiofacial syndrome: comparison to children with Down syndrome". Genet. Med. 3 (1): 72–8. doi:10.1097/00125817-200101000-00016. PMID 11339384.
^ Eliez S, Palacio-Espasa F, Spira A (2000). "Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes". Eur Child Adolesc Psychiatry 9 (2): 109–14. doi:10.1007/s007870050005. PMID 10926060.
^ ^a ^b ^c Robin NH, Shprintzen RJ (2005). "Defining the clinical spectrum of deletion 22q11.2". J. Pediatr. 147 (1): 90–6. doi:10.1016/j.jpeds.2005.03.007. PMID 16027702.
^ ^a ^b Solot CB, Knightly C, Handler SD (2000). "Communication disorders in the 22Q11.2 microdeletion syndrome". J Commun Disord 33 (3): 187–203; quiz 203–4. doi:10.1016/S0021-9924(00)00018-6. PMID 10907715.
^ Persson C, Niklasson L, Oskarsdóttir S, Johansson S, Jönsson R, Söderpalm E (2006). "Language skills in 5-8-year-old children with 22q11 deletion syndrome". Int J Lang Commun Disord 41 (3): 313–33. doi:10.1080/13682820500361497. PMID 16702096.

This article incorporates public domain text from The U.S. National Library of Medicine

External links

Media related to DiGeorge Syndrome at Wikimedia Commons

DiGeorge syndrome at DMOZ
Velo-Cardio-Facial Syndrome Information Foundation
McDonald-McGinn DM, Emanuel BS, Zackai EH (December 16, 2005). "22q11.2 Deletion Syndrome". In Pagon RA, Bird TD, Dolan CR, Stephens K. GeneReviews. PMID 20301696. NBK1523.
Firth HV (February 17, 2009). "22q11.2 Duplication". In Pagon RA, Bird TD, Dolan CR, Stephens K. GeneReviews. PMID 20301749. NBK3823.
Information on 22q11.2 Deletion syndrome from Seattle Children's Hospital

UpToDate Contents

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1. 頭蓋顔面異常を伴う症候群 syndromes with craniofacial abnormalities
2. ディジョージ症候群（22q11.2欠失）：疫学および病因 digeorge 22q11 2 deletion syndrome epidemiology and pathogenesis
3. ディジョージ症候群（22q11.2欠失）：マネージメントおよび予後 digeorge 22q11 2 deletion syndrome management and prognosis
4. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
5. ディジョージ（22q11.2欠失）症候群：臨床的特徴および診断 digeorge 22q11 2 deletion syndrome clinical features and diagnosis

English Journal

Transrepression activity of T-box1 in a gene regulation network in mouse cells.

Yee KK, Yagi H, Matsuoka R, Nakanishi T, Furukawa T.SourceInstitute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo 162-8666, Japan; International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo 162-8666, Japan.
Gene.Gene.2012 Dec 1;510(2):162-70. doi: 10.1016/j.gene.2012.09.017. Epub 2012 Sep 14.
T-box1 (TBX1) has been identified as a candidate disease-causing gene in DiGeorge syndrome/conotruncal anomaly face syndrome (DGS/CAFS). Tbx1 can function as a transcriptional transactivator as well as a transrepressor. Although the transactivating role of Tbx1 has been the focus of a number of publ
PMID 22982415

Japanese Journal

声門上器具air-Qを使用して気管支鏡下に挿管したShprintzen-Goldberg症候群の1症例

麻酔 62(8), 942-945, 2013-08
NAID 40019775756

症例報告 Shprintzen-Goldberg症候群に伴った側弯症の4例

臨床整形外科 44(10), 1063-1069, 2009-10
NAID 40016851074

Phenotypic Heterogeneity of Marfan-Like Connective Tissue Disorders Associated With Mutations in the Transforming Growth Factor-β Receptor Genes

Circulation journal : official journal of the Japanese Circulation Society 71(8), 1305-1309, 2007-07-20
NAID 110006368861

Related Pictures

★リンクテーブル★

リンク元	「口蓋心臓顔面症候群」
関連記事	「syndrome」

「口蓋心臓顔面症候群」

22q11.2 deletion syndrome
	Brain computer tomography cuts of the patient, demonstrating basal ganglia and periventricular calcification. From a case report by Tonelli et al., 2007
Classification and external resources
ICD-10	D82.1
ICD-9	279.11, 758.32
OMIM	188400
DiseasesDB	3631
eMedicine	med/567 ped/589 derm/716
Patient UK	DiGeorge syndrome
MeSH	D004062

　　[★]

英: velo-cardio-facial syndrome, VCFS, velocardiofacial syndrome, VCF syndrome, Shprintzen VCF syndrome
同: velo-cardio-facial症候群, Shprintzen syndrome？
関: 22q11欠失症 chromosome 22q11.2 deletion syndrome

参考

OMIM

http://omim.org/entry/192430

「syndrome」

　　[★]

n.

症候群

[pmid18053182-1] Tonelli AR, Kosuri K, Wei S, Chick D (2007). "Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report". J Med Case Reports 1: 167. doi:10.1186/1752-1947-1-167. PMC 2222674. PMID 18053182.

[2] Swillen, A.; Vogels, A.; Devriendt, K.; Fryns, J. P. (undefined NaN). "Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications". American Journal of Medical Genetics 97 (2): 128–135. doi:10.1002/1096-8628(200022)97:2<128::AID-AJMG4>3.0.CO;2-Z. Check date values in: |date= (help)

[DiGeorge-3] Cooper, Max D.; Peterson, Raymond D.A.; Good, Robert A. (November 1965). "A new concept of the cellular basis of immunity". The Journal of Pediatrics 67 (5): 907–908. doi:10.1016/S0022-3476(65)81796-6.

[Bolognia-4] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

[Andrews-5] James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.

[6] Shprintzen, RJ; Goldberg, RB; Lewin, ML; Sidoti, EJ; Berkman, MD; Argamaso, RV; Young, D (January 1978). "A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.". The Cleft palate journal 15 (1): 56–62. PMID 272242.

[7] Burn, J; Takao, A; Wilson, D; Cross, I; Momma, K; Wadey, R; Scambler, P; Goodship, J (October 1993). "Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.". Journal of medical genetics 30 (10): 822–4. doi:10.1136/jmg.30.10.822. PMC 1016562. PMID 8230157.

[8] Shaikh, TH; Kurahashi, H; Saitta, SC; O'Hare, AM; Hu, P; Roe, BA; Driscoll, DA; McDonald-McGinn, DM; Zackai, EH; Budarf, ML; Emanuel, BS (1 March 2000). "Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.". Human molecular genetics 9 (4): 489–501. doi:10.1093/hmg/9.4.489. PMID 10699172.

[pmid14736631-9] Oskarsdóttir S, Vujic M, Fasth A (2004). "Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden". Arch. Dis. Child. 89 (2): 148–51. doi:10.1136/adc.2003.026880. PMC 1719787. PMID 14736631.

[10] DiGeorge AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. IV(1). White Plains, NY: March of Dimes-Birth Defects Foundation; 1968:116-21

[11] Restivo, Angelo; Sarkozy, Anna; Digilio, Maria Cristina; Dallapiccola, Bruno; Marino, Bruno (February 2006). "22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system.". Journal of Cardiovascular Medicine 7 (2): 77–85. doi:10.2459/01.JCM.0000203848.90267.3e. PMID 16645366.

[12] Arthur J. Moss, Hugh D. Allen (16 October 2007). Moss and Adams' Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult, Volume 1. Lippincott Williams & Wilkins. Truncus arteriosus communis associated with chromosome 22ql 1 deletion.

[Bebbane_2006_psychosis-13] Debbané M, Glaser B, David MK, Feinstein C, Eliez S (2006). "Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications". Schizophr. Res. 84 (2–3): 187–93. doi:10.1016/j.schres.2006.01.019. PMID 16545541.

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[19] Online 'Mendelian Inheritance in Man' (OMIM) DiGeorge syndrome; DGS -188400

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Shprintzen syndrome