Prenatal Diagnosis of the 22q11.2 Duplication Syndrome.
- Author:
Moon Hee LEE
1
;
So Yeon PARK
;
Bom Yi LEE
;
Eun Young CHOI
;
Jin Woo KIM
;
Ju Yeon PARK
;
Yeon Woo LEE
;
Ah Rum OH
;
Shin Young LEE
;
Jae Hyug YANG
;
Hyun Mee RYU
Author Information
1. Laboratoy of Medical Genetics, Cheil General Hospital & Women's Healthcare Center, Kwandong University, College of Medicine, Korea. hmryu@yahoo.com
- Publication Type:Case Report
- Keywords:
22q11.2 duplication;
Prenatal diagnosis;
FISH
- MeSH:
Amniocentesis;
Congenital Abnormalities;
Diagnostic Tests, Routine;
Fetus;
Genetic Counseling;
Humans;
Infant, Newborn;
Interphase;
Karyotype;
Learning Disorders;
Lymphocytes;
Mothers;
Parents;
Phenotype;
Pregnancy;
Prenatal Diagnosis;
Recurrence
- From:Journal of Genetic Medicine
2009;6(2):175-178
- CountryRepublic of Korea
- Language:English
-
Abstract:
The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been increased by molecular techniques, such as array CGH. In this study, we report a familial case of 22q11.2 duplication detected prenatally. Her first pregnancy was terminated because of 22q11.2 duplication detected incidentally by BAC array CGH. The case was referred due to second pregnancy with same 22q11.2 duplication. We perfomed repeat amniocentesis for karyotype and FISH analysis. Karyotype analysis from amniocytes and parental lymphocytes were normal, while FISH analysis of interphase cells presented a duplication of 22q11.2 in the fetus and phenotypically normal mother. The fetal ultrasound showed grossly normal finding. After genetic counseling about variable phenotype with intrafamilial variability with 50% recurrence rate, the couple decided to continue the pregnancy. The newborn had no apparent congenital abnormalities until 2 weeks after birth. We recommend that family members of patients with a 22q11.2 duplication be tested by the interphase FISH analysis. Also, we point out the importance of genetic counseling and an evaluation of the clinical relevance of diagnostic test results.
