Korean J Obstet Gynecol.  2004 Sep;47(9):1763-1769.

Two Cases of Prenatal Diagnosis of 22q11.2 Deletion Syndrome (DiGeorge Syndrome)

• Park S
• Jeon GH
• Roh HJ
• Ahn SM
• Kim SK
• Shim JY
• Kim SH
• Won HS
• Lee PR
• Kim A
• Seo EJ
• Yoo HW

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.

Keyword

22q11.2 deletion; DiGeorge syndrome; Prenatal diagnosis; FISH

MeSH Terms

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