Two Cases of Prenatal Diagnosis of 22q11.2 Deletion Syndrome (DiGeorge Syndrome).
- Author:
Sungkyun PARK
1
;
Gyun Ho JEON
;
Hyun Jin ROH
;
Song Mi AHN
;
Sun Kwon KIM
;
Jae Yoon SHIM
;
Sung Hoon KIM
;
Hye Sung WON
;
Pil Ryang LEE
;
Ahm KIM
;
Eul Ju SEO
;
Han Wook YOO
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
22q11.2 deletion;
DiGeorge syndrome;
Prenatal diagnosis;
FISH
- MeSH:
Autopsy;
Child;
Chromosome Aberrations;
Cleft Palate;
Diagnosis;
DiGeorge Syndrome*;
Down Syndrome;
Heart;
Heart Defects, Congenital;
Humans;
Hypocalcemia;
In Situ Hybridization, Fluorescence;
Mothers;
Prenatal Diagnosis*;
Ultrasonography
- From:Korean Journal of Obstetrics and Gynecology
2004;47(9):1763-1769
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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 a wide range of findings such as cardiac anomaly, abnormal face, thymic hypoplasia, cleft palate, and hypocalcemia. Cardiac involvement is a prominent feature and most of the patients have a conotruncal heart defect. 22q11.2 deletion is the most common chromosomal cause of congenital heart defect after trisomy 21. Familial transmission accounts for about 8 per cent of cases and most of the cases develop sporadically. Even in cases where this syndrome is inherited, the parents' chromosomal abnormalities are often discovered only after the deletion is suspected in their children. We describe two prenatal cases in which this syndrome was suspected by ultrasonogram and confirmed by fluorescent in situ hybridization (FISH). In both cases, there was no known prior family history of cardiac abnormalities or chromosomal abnormality. In one case, autopsy following termination further confirmed the diagnosis. In the other case, the mother was also found to have 22q11.2 deletion.
