- Aspiration pneumonia in the child with DiGeorge syndrome: A case report
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Lee JY, Han YJ
- KMID: 1766662
- Korean J Anesthesiol.
- 2011 Jun;60(6):449-452.
- doi: 10.4097/kjae.2011.60.6.449
DiGeorge syndrome is associated with a chromosome 22q11.2 deletion and manifests with variable clinical findings. Aspiration pneumonia can be a perioperative complication of great concern in this syndrome. In this... -
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- A Case of Partial DiGeorge Syndrome
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Han MH, Moon SS, Cho SC, Lee DY
- KMID: 2001545
- J Korean Soc Pediatr Endocrinol.
- 1997 Mar;2(1):139-144.
DiGeorge syndrome, a developmental defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformation. This... -
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- Complex cardiac Anomaly associated with the Digeorge syndrome
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Moon JH, Ahn WS, Hur Y, Kim BY, Lee JH
- KMID: 1686075
- Korean J Thorac Cardiovasc Surg.
- 1993 Nov;26(11):886-889.
No abstract available. -
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- A Case of DiGeorge Syndrome With Ocular Manifestation
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Kim KM, Lee JW, Chun BY, Shin JP, Kim SY
- KMID: 2213008
- J Korean Ophthalmol Soc.
- 2009 Dec;50(12):1909-1912.
- doi: 10.3341/jkos.2009.50.12.1909
PURPOSE: DiGeorge syndrome (chromosome 22q11.2 deletion syndrome) is a syndrome of multiple congenital anomalies characterized by hypoplasia or aplasia of the thymus and parathyroid, cardiovascular malformation, immune deficiency, cleft palate,... -
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- A Case of DiGeorge Syndrome Associated with Complex Cardiovascular Anomalies
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Jung SM, Bae JH, Kim DH, Na BG, Oh TG, Kim DW, Cho MC
- KMID: 2251475
- Korean J Med.
- 1997 Nov;53(5):714-719.
DiGeorge syndrome is the developmental anomalies of the third and fourth pharngeal pouches. Recently, damages or abnormal development of the neural crest is suggested as a possible pathogenetic factor, because... -
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- A case of Congenital Cardiac Anomaly Associated with DiGeorge Syndrome
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Son YS, Kim TS, Shin JS, Hwang JJ, Choi YH, Kim HJ, Lee JW, Park SH
- KMID: 1915452
- Korean J Thorac Cardiovasc Surg.
- 1999 Jun;32(6):584-587.
The DiGeorge syndrome is a rare congenital abnormality consisting of aplasia or hypoplasia of the thymus and parathyroid glands resulting from malformation of the third and fourth pharyngeal pouches. This... -
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- DiGeorge syndrome who developed lymphoproliferative mediastinal mass
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Kim KY, Hur JA, Kim KH, Cha YJ, Lee MJ, Kim DS
- KMID: 2149747
- Korean J Pediatr.
- 2015 Mar;58(3):108-111.
- doi: 10.3345/kjp.2015.58.3.108
DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with... -
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- Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization
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Cho EH, Park BY, Cho JH, Kang YS
- KMID: 1781597
- Korean J Lab Med.
- 2009 Feb;29(1):71-76.
- doi: 10.3343/kjlm.2009.29.1.71
BACKGROUND: Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure... -
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- A Case of DiGeorge Syndrome with Metopic Synostosis
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Kim SM, Park SH, Kang NH, Byeon JH
- KMID: 2220424
- J Korean Soc Plast Reconstr Surg.
- 2011 Jan;38(1):77-80.
PURPOSE: We report a patient with DiGeorge syndrome who was later diagnosed as mild metopic synostosis and received anterior 2/3 calvarial remodeling. METHODS: A 16-month-old boy, who underwent palatoplasty for cleft... -
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- A Case of DiGeorge Syndrome
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Son YJ, Jeon YS, Jung SL, Choeh K
- KMID: 2207975
- J Korean Pediatr Soc.
- 1998 Mar;41(3):390-395.
We experienced a case of DiGeorge syndrome in a 25-day-old male infant presented with micrognathia, short neck, fish-shaped mouth and intractable seizures with a loading dose of phenobarbital & dilantin.... -
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- A Case of CATCH22 Syndrome with Normal Parathyroid Function
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Lee MJ, An SY, Bae CB, Sohn YB, Chung YS
- KMID: 1497656
- Endocrinol Metab.
- 2012 Jun;27(2):151-154.
- doi: 10.3803/EnM.2012.27.2.151
CATCH 22 is a medical acronym for cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22. It includes DiGeorge syndrome, conotruncal anomaly... -
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- A 18 Trigomy syndrome, Probably Combined with DiGeorge Syndrome
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Kang WI, Lee HJ, Park CM
- KMID: 1667861
- J Korean Pediatr Soc.
- 1980 Feb;23(2):143-148.
A case of 18 trisomy syndrome in a newborn female infant was presented with a brief review of literatures. She was characterized by low brith weight, swallowing difficulty, cleftplate and... -
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- Right Aortic Arch with a Retroesophageal Left Subclavian Artery and an Anomalous Origin of the Pulmonary Artery from the Aorta
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Jeon CS, Shim MS, Yang JH, Jun TG
- KMID: 2368432
- Korean J Thorac Cardiovasc Surg.
- 2017 Feb;50(1):44-46.
- doi: 10.5090/kjtcs.2017.50.1.44
We report the case of a newborn with a rare anatomic variation: a right aortic arch with a retroesophageal left subclavian artery and an anomalous origin of the pulmonary artery... -
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- Immunologic Characteristics of CATCH 22 Syndrome
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Ryu HY, Jo EK, Cheon EJ, Kil HR, Lee JH
- KMID: 2207455
- J Korean Pediatr Soc.
- 2000 Nov;43(11):1423-1429.
PURPOSE: Microdeletion of chromosome 22q11.2 are associated with DiGeorge syndrome(DGS), velocardiofacial syndrome(VCFS) and conotruncal anornaly face syndrome(CTAFS). DGS was originally described as an irnmunodeficiency disorder secondary to impaired T cell production due to... -
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- A Case Report of Schizophrenia Patient with 22q11 Deletion Syndrome
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Bhang SY, Kim CY, Joo YH, Seu EJ, Ryu HE
- KMID: 1636046
- J Korean Neuropsychiatr Assoc.
- 2003 Jul;42(4):528-531.
It has been well known that 22q deletion syndrome (22qDS), encompasses several genetic syndromes associated with microdeletions at chromosome 22q11.2 became relatively generally identified in the 1990s through the availability... -
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- A Case of Crossed Branch Pulmonary Arteries in Dandy-Walker Malformation
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Kim S, Park D
- KMID: 1946212
- J Korean Pediatr Soc.
- 2001 Jul;44(7):827-831.
Crossed pulmonary arteries is an uncommon anomaly in which the ostium of the left pulmonary artery originates superiorly and to the right of the right pulmonary artery. The pulmonary arteries... -
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- Two Cases of Prenatal Diagnosis of 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
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Park S, Jeon GH, Roh HJ, Ahn SM, Kim SK, Shim JY, Kim SH, Won HS, Lee PR, Kim A, Seo EJ, Yoo HW
- KMID: 2077158
- Korean J Obstet Gynecol.
- 2004 Sep;47(9):1763-1769.
Before the exact location of its chromosomal abnormality was identified, 22q11.2 deletion syndrome was described as many different names depending on its presenting clinical features. Patients with this syndrome have... -
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- A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman
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Lee SK, Lee MJ, Lee HJ, Kim BK, Sohn YB, Chung YS
- KMID: 2286315
- J Bone Metab.
- 2013 May;20(1):57-60.
- doi: 10.11005/jbm.2013.20.1.57
CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prevalence estimated at 1:3,000-1:9,000. Most deletions occurs... -
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- A Case of Partial DiGeorge Syndrome in Prematurity
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Sung TJ, Ko EY, Kim DH, Oh JE, Kwon YS, Lim DH, Son BK
- KMID: 2335604
- J Korean Pediatr Soc.
- 2002 Mar;45(3):383-389.
We experienced a case of partial DiGeorge syndrome in a 35+5 week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and... -
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- 22q11 Microdeletion and Clinico-Genetic Correlation in CATCH 22 Syndrome
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Kil HR, Lee YH, Chung YH
- KMID: 2104493
- J Korean Pediatr Soc.
- 2000 Dec;43(12):1536-1543.
PURPOSE: Deletion of chromosome 22q11 is associated with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. This study was performed to determine the criteria of clinical phenotype as recognizable... -
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