41. New Link To DiGeorge Syndrome New Link to digeorge syndrome. In this study, scientists studied animals, includingmice and zebra fish, and DNA samples from people with digeorge syndrome. http://www.healthfinder.gov/news/newsstory.asp?docID=511634

42. DiGeorge Syndrome Pediatric Primary Immune Deficiency. digeorge syndrome. DiGeorgeSyndrome. Family Village digeorge syndrome. 11/05/01. http://www.pedpid.com/digeorge_syndrome.htm

DiGeorge Syndrome DiGeorge Syndrome Family Village - DiGeorge Syndrome

43. The Scientist :: Gene For DiGeorge Syndrome Gene for digeorge syndrome. Haploinsufficiency of the murine TBX1 gene causescardiovascular defects similar to features of human digeorge syndrome. http://www.biomedcentral.com/news/20010227/02/

Previous Next Gene for DiGeorge syndrome Haploinsufficiency of the murine By Jonathan Weitzman DiGeorge syndrome (DGS; also known as Velo-cardio-facial syndrome ) is associated with hemizygous deletion of a region of human chromosome 22q11 , causing a range of abnormalities including cardiovascular defects, hypoplasia of the thymus and parathyroid gland, and craniofacial abnormalities. Three research groups have identified the gene, a member of the T-box family of transcription factors, as a key determinant of the DGS phenotype. Merscher et al Cell :619-629) and Lindsay et al Nature :97-101) used chromosomal engineering induced using the Cre recombinase and artificial chromosome transgenesis to localize the haplosufficiency region on the mouse chromosome, chromosome 16, that corresponds to the human disease region. This region contains the gene, expression of which in the pharyngeal arches makes it a strong candidate gene for DGS. Both groups, together with Jerome and Papaioannou ( Nature Genetics 286-291), show that haploinsufficiency in mice causes cardiovascular defects and anomalies of the heart outflow tract that resemble the human syndrome. Furthermore

44. Entrez-PubMed Click here to read digeorge syndrome phenotype in mice mutant forthe Tbox gene, Tbx1. Jerome LA, Papaioannou VE. Department of http://www.biomedcentral.com/pubmed/11242110

PubMed Nucleotide Protein Genome ... Books Search PubMed Protein Nucleotide Structure Genome PMC OMIM Taxonomy Books PopSet ProbeSet 3D Domains UniSTS Domains SNP Journals UniGene NCBI Web Site for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Browser Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Domain Links 3D Domain Links Genome Links ProbeSet Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links Show: Sort Author Journal Pub Date Text File Clipboard Order Nat Genet 2001 Mar;27(3):286-91 Related Articles, Links DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Jerome LA, Papaioannou VE. Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, New York, New York, USA. PMID: 11242110 [PubMed - indexed for MEDLINE] Summary Brief Abstract Citation ASN.1

45. Thymus Tissue Heals DiGeorge Syndrome - References And Sources, Science News Onl References Sources Thymus tissue heals digeorge syndrome Markert, ML, et al.1999. Transplantation of thymus tissue in complete digeorge syndrome. http://www.sciencenews.org/sn_arc99/11_20_99/note1ref.htm

Thymus tissue heals DiGeorge syndrome Transplants of thymus tissue into babies born without this essential gland have given these children a functioning immune system. References: Markert, M.L., et al . 1999. Transplantation of thymus tissue in complete DiGeorge syndrome. New England Journal of Medicine 341(Oct. 14):1180. Further Readings: DiGeorge, A.M. 1968. Congenital absence of the thymus and its immunologic consequences: Concurrence with congenital hypoparathyroidism. In: Bergsma, D., ed . Birth defects original article series. Vol. 4. White Plains, NY: National Foundation March of Dimes:116. Markert, M.L., et al . 1997. Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus. Journal of Immunology Weissman, I.L., and J.A. Shizuru. 1999. Immune reconstitution. New England Journal of Medicine 341(Oct. 14):1227. Sources: M. Louise Markert

46. Cardiovascular Disorders - DiGeorge Syndrome Find A Doctor. For a doctor who specializes in this topic, click here. DiGeorgeSyndrome The Thymus and Parathyroid Glands. What is digeorge syndrome? http://www.chkd.org/Cardiology/digeorge.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmalogy Orthopaedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. DiGeorge Syndrome The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. What is DiGeorge syndrome?

47. Diabetes & Other Endocrine And Metabolic Disorders - DiGeorge Syndrome digeorge syndrome. What is digeorge syndrome? The Thymus and Parathyroid Glands. Thename of digeorge syndrome was applied to this group of features. http://www.chkd.org/Diabetes/digeo.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmalogy Orthopaedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. DiGeorge Syndrome What is DiGeorge syndrome? The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries:

48. Digeorge Syndrome | Vhihealthe digeorge syndrome. digeorge syndrome. In Physicians' Guide to Rare Diseases, editedby Jess G. Thoene. Montvale, NJ Dowden Publishing Company, Inc., 1995. http://www2.vhihealthe.com/topic/topic100586712

You are here: Home Health A to Z Digeorge Syndrome Frey, Rebecca J. Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition DiGeorge syndrome (also called congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a birth defect that is caused by an abnormal chromosome and affects the baby's immune system. The syndrome is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for the pediatrician who first described it in 1965. Description The prevalence of DiGeorge syndrome, is debated; the estimates range from 1:4000 to 1:6395. Because the symptoms caused by the chromosomal abnormality vary somewhat from patient to patient, the syndrome probably occurs much more often than was previously thought. DiGeorge syndrome is sometimes described as one of the "CATCH 22" disorders, so named because of their characteristics-cardiac defects, abnormal facial features, thymus underdevelopment, cleft palate, and hypocalcemia-caused by a deletion of several genes in chromosome 22. The specific facial features associated with DiGeorge syndrome include low-set ears, wide-set eyes, a small jaw, and a short groove in the upper lip. The male/female ratio is 1:1. The syndrome appears to be equally common in all racial and ethnic groups. Causes and symptoms DiGeorge syndrome is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the fetus. The type of defect that is involved is called deletion. A deletion occurs when the genetic material in the chromosomes does not recombine properly during the formation of sperm or egg cells. The deletion means that several genes from chromosome 22 are missing in DiGeorge syndrome patients. According to a 1999 study, 6% of children with DiGeorge syndrome inherited the deletion from a parent, while 94% had a new deletion. Other conditions that are associated with DiGeorge syndrome are diabetes (a condition where the pancreas no longer produces enough insulin) in the mother and fetal alcohol syndrome (a pattern of birth defects, and learning and behavioral problems affecting individuals whose mothers consumed alcohol during pregnancy).

49. Discarded Thymus Tissue May Save Lives In Digeorge Syndrome Discarded Thymus Tissue May Save Lives In digeorge syndrome Infants DURHAM, NC October 14, 1999 Using thymus tissue that is normally thrown away after http://www.pslgroup.com/dg/13967e.htm

50. Denim Fry From Calgary - Diagnosed With Severe Digeorge Syndrome - We Need A Mir Denim was born on November 7, 2002 with a very rare congenital disease called digeorge syndrome which is a primary immune deficiency disease. http://www.denimfund.com/

Site Updated: March 27, 2003 Thank you for visiting the site dedicated to Denim Fry. Denim was born on November 6, 2002 with a very rare congenital disease called " Digeorge Syndrome " which is a primary immune deficiency disease. The immediate family of Denim Fry, and the extended family of God are believing for full healing and recovery. Denim has experienced many answers to prayer already, and we know that God's hand is on his life. Your prayers, and financial gifts are needed. The medical costs associated with this process are immense. Jeff, and Angie Fry (the parents) are required to relocate to North Carolina to be with Denim, which means that Jeff is not able to work. As friends, we need to pour into their lives with prayer, and finances. First Assembly is partnering with them, and therefore your gifts are tax receiptable. Thank you for partnering with us, as we watch God miraculously transform Denim's life! One more photo of Denim - March 27, 2003

51. Children's Health At Doernbecher - Child Health A-Z digeorge syndrome, What is digeorge syndrome? cleft lip and/or palate. Thename of digeorge syndrome was applied to this group of features. http://www.ohsuhealth.com/dch/health/cardiac/digeorge.asp

Cardiovascular Disorders Index The Heart Diagnosing and Evaluating Heart Disease in Children Heart Murmurs ... Online Resources You have selected the following Health topic: - Adolescent Medicine - Burns - Cardiovascular Disorders - Care of the Terminally Ill Child - Children Having Surgery - Common Childhood Injuries and Poisoning - Craniofacial Anomalies - Dermatology - Diabetes - Eye Care - Genetics - Growth and Development - High-Risk Newborn - High-Risk Pregnancy - Immunizations - Infectious Diseases - Mental Health - Neurological Disorders - Normal Newborn - Oncology - Orthopaedics - The Pediatrician - Pregnancy and Childbirth - Respiratory Disorders - Transplantations - Well-Care Visits DiGeorge Syndrome RELATED SERVICES Cardiology Cardiothoracic Surgery What is DiGeorge syndrome? The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following: hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels)

52. Children's Health At Doernbecher - Child Health A-Z digeorge syndrome, RELATED SERVICES. ·, Endocrinology and Diabetes. ·,Cardiology. What is digeorge syndrome? The history http://www.ohsuhealth.com/dch/health/diabetes/digeorge.asp

Diabetes and Other Endocrine and Metabolic Disorders Index Anatomy of the Endocrine System Growth in Children Diabetes ... Hypoparathyroidism DiGeorge Syndrome Disorders Affecting the Adrenal Glands Glossary Online Resources You have selected the following Health topic: - Adolescent Medicine - Burns - Cardiovascular Disorders - Care of the Terminally Ill Child - Children Having Surgery - Common Childhood Injuries and Poisoning - Craniofacial Anomalies - Dermatology - Diabetes - Eye Care - Genetics - Growth and Development - High-Risk Newborn - High-Risk Pregnancy - Immunizations - Infectious Diseases - Mental Health - Neurological Disorders - Normal Newborn - Oncology - Orthopaedics - The Pediatrician - Pregnancy and Childbirth - Respiratory Disorders - Transplantations - Well-Care Visits DiGeorge Syndrome RELATED SERVICES Endocrinology and Diabetes Cardiology What is DiGeorge syndrome? The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:

53. DiGeorge Syndrome From Pediatrics / Allergy And Immunology digeorge syndrome The syndrome that now is understood to be the chromosome 22q11deletion syndrome actually grew out of 3 syndromes described on 2 http://author.emedicine.com/PED/topic589.htm

eMedicine Journal Pediatrics Allergy And Immunology DiGeorge Syndrome Synonyms, Key Words, and Related Terms: DGS, DiGeorge association, DGA, chromosome 22q11 deletion syndrome, CATCH 22, cardiac anomalies, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia on chromosome 22, congenital cardiac anomalies, craniofacial dysmorphology, learning dysfunction, velocardiofacial syndrome, VCFS, conotruncal anomalies face syndrome, CTAF syndrome Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Daniel AC Frattarelli, MD, FAAP , Clinical Instructor, Department of Pediatrics, Wayne State University School of Medicine; Fellow, Clinical Pediatric Pharmacology, Division of Pharmacology and Toxicology, Children's Hospital of Michigan Coauthored by Erawati Bawle, MD, FAAP, FACMG , Director, Division of Genetic and Metabolic Diseases, Children's Hospital of Michigan; Clinical Professor, Department of Pediatrics, Wayne State University School of Medicine Daniel AC Frattarelli, MD, FAAP, is a member of the following medical societies:

54. Diabetes & Other Endocrine And Metabolic Disorders - DiGeorge Syndrome digeorge syndrome. What is digeorge syndrome? However, for the purposes of thiscontent, we will call it digeorge syndrome. What causes digeorge syndrome? http://www.musckids.com/health_library/diabetes/digeorge.htm

Home About Us Departments MUSC eNurse ... Your Hospital Visit 171 Ashley Ave. Charleston, SC 29425 800-424-MUSC Print Version The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. DiGeorge Syndrome What is DiGeorge syndrome? The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following: hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels) hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)

55. Allergy, Asthma, And Immunology - DiGeorge Syndrome Print Version. Allergy, Asthma, and Immunology digeorge syndrome. TheThymus and Parathyroid Glands The What is digeorge syndrome? The http://www.musckids.com/health_library/allergy/digeorge.htm

Home About Us Departments MUSC eNurse ... Your Hospital Visit 171 Ashley Ave. Charleston, SC 29425 800-424-MUSC Print Version Allergy, Asthma, and Immunology DiGeorge Syndrome The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. What is DiGeorge syndrome? The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following: hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels) hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system

56. Short Description Of Cell Lines. Pathology DiGeorge Syndrome * Version 4.200205, Short description of cell lines. Pathology DiGeorgesyndrome *188400 OMIM record. By selecting the cell line http://www.biotech.ist.unige.it/cldb/pat380.html

57. Health Library - DiGeorge Syndrome Saint Luke's Health System eLibrary. digeorge syndrome. The thymus and parathyroidglands are missing or underdeveloped in children with digeorge syndrome. http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h

58. DiGeorge Sequence/Velocardiofacial Syndrome Parathyroids; Third and Fourth Pharyngeal Pouch Syndrome). digeorge syndrome;Emily has DiGeorge; DiGeorge Anomaly; VeloCardio-Facial Syndrome; http://www.bdid.com/digeorge.htm

HOME DiGeorge Sequence/Velocardiofacial Syndrome (Catch22; Hypoplasia Of Thymus and Parathyroids; Third and Fourth Pharyngeal Pouch Syndrome) DIGEORGE SYNDROME Emily has DiGeorge DiGeorge Anomaly Velo-Cardio-Facial Syndrome ... HOME

59. HUM-MOLGEN: Gene Involved In Digeorge Syndrome Identified Gene Involved In digeorge syndrome Identified, digeorge syndrome is caused by deletionsof large sections of DNA from our smallest chromosome chromosome 22. http://www.hum-molgen.de/NewsGen/03-2001/msg04.html

home genetic news bioinformatics biotechnology ... register for news alert Gene Involved In Digeorge Syndrome Identified March, 1 2001 3:34 CATCH 22 In the 1 March issue of Nature (Vol. 410, No. 6824, 01 March 2001), researchers from Baylor College of Medicine in Texas pinpoint the gene behind one of the most common genetic diseases to affect humans: DiGeorge syndrome. The disease results in a broad spectrum of symptoms, including heart abnormalities, disruption of the immune system and facial morphology. DiGeorge syndrome affects around 1 in 4,000 babies born, and next to Down syndrome it is the most common genetic cause of heart defects. DiGeorge syndrome is caused by deletions of large sections of DNA from our smallest chromosome: chromosome 22. Up to one tenth of this chromosome’s 33 million DNA base pairs can be missing from the genome of DiGeorge syndrome patients. A large number of genes lie within this section of DNA (known as 22q11.2), but until now researchers have been unable to pinpoint the exact gene, or genes, which directly cause the disease. Antonio Baldini and colleagues used state-of-the-art genetic techniques to test a number of candidate genes in a mouse model of DiGeorge syndrome. This model allows them to identify a gene known as Tbx1— a control gene that switches on the expression of other genes during development—as being responsible for the main cardiac symptoms of the disease. The finding brings to an end the long search for a gene involved in DiGeorge syndrome, and provides scientists with insight into both the disease, and the normal development of complex organs like the heart.

60. HUM-MOLGEN: Two Genes For DiGeorge Syndrome Two Genes For digeorge syndrome, March, 5 2001 1031, your informationresource in human molecular genetics. digeorge syndrome (DGS http://www.hum-molgen.de/NewsGen/03-2001/msg17.html

home genetic news bioinformatics biotechnology ... register for news alert Two Genes For DiGeorge Syndrome March, 5 2001 10:31 DiGeorge syndrome (DGS), or velocardiofacial syndrome, is a relatively frequent genetic disorder (it affects 1 in 4,000 live births), and is usually due to a deleted region of chromosome 22. People with DGS therefore typically lack one copy of each of several genes, the number of which depends on the size of the deletion. But the identification of the minimal deletion that causes DGS has not led to the unambiguous identification of the gene(s) that are critical to the disease. Several laboratories have tried to identify the relevant human genes by producing mice that lack functional copies of the mouse counterparts of the chromosome-22 genes that are typically deleted in people with DGS-with the hope that such mice will mimic features of DGS. These include developmental defects in the thyroid and parathyroid glands, heart defects, cleft palate and other facial malformations. This strategy has now borne fruit; two genes are now implicated in some if not all aspects of the DGS (

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