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Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction
Author(s) -
Chen ChihPing,
Chern SchuRern,
Chang TungYao,
Lee ChenChi,
Chen LiFeng,
Tzen ChinYuan,
Wang Wayseen,
Lin ChenJu,
Yang Brian P. T.,
Yang Lawrence S. T.
Publication year - 2003
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.517
Subject(s) - biology , ring chromosome , aneuploidy , fluorescence in situ hybridization , monosomy , gene duplication , prenatal diagnosis , genetics , karyotype , fetus , chromosome , microbiology and biotechnology , pregnancy , gene
Objectives To present the prenatal diagnosis and perinatal findings of mosaic ring chromosome 22. Case Amniocentesis was performed at 18 gestational weeks because of an advanced maternal age. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 22, 45,XX,‐22[6]/46,XX,r(22)(p13q13.31)[15]. Abnormal fetal sonographic findings included small for gestational age, a ventricular septal defect, and truncus arteriosus. The pregnancy was terminated. Additional phenotypic findings included hypertelorism, epicanthal folds, and abnormal ears. Cytogenetic analysis of the cord blood lymphocytes revealed a complex mosaic karyotype, 45,XX,‐22[7]/46,XX,r(22)(p13q13.31)[82]/46,XX,idic r(22)(p13q13.31;p13q13.31)[11]. Cytogenetic analysis of the hepatocytes also revealed mosaic r(22) with mosaicism for idic r(22) and monosomy 22. The deletion of distal 22q and the duplication of 22q11.2 on idic r(22), and the distal 22q deletion on r(22) were demonstrated by fluorescent in situ hybridization (FISH) analysis using 22q terminal probes at 22q13 and a DiGeorge syndrome critical region probe at 22q11.2. The breakpoint on distal 22q13 and the extent of the duplication of 22q on idic r(22) was determined by examining polymorphic markers specific for chromosome 22 using quantitative fluorescent polymerase chain reaction assays. The chromosomal aberration was of maternal origin. Conclusion Molecular and FISH studies allow a better delineation of some prenatally detected aneuploidy syndromes and help elucidate the genetic pathogenesis. Fetuses having mosaic r(22) with a low level mosaicism for r(22) duplication/deletion may present cardiovascular abnormalities and intrauterine growth restriction on prenatal ultrasound. Copyright © 2002 John Wiley & Sons, Ltd.