title: 22q11.2 microduplication in a family with recurrent fetal congenital heart disease.
abstract: People carrying a 22q11.2 microduplication display a phenotype varying from normal to severely affected. We report a phenotypically normal female presented with a fetus having a severe congenital heart defect with ventricular septal defect, tricuspid atresia, patent ductus arteriosus and interrupted aortic arch. The pregnant woman had a history of overall three consecutive aberrant pregnancies with tetralogy of Fallot. Standard G-banding karyotype analysis of the parents and the actual pregnancy were normal, while array comparative genomic hybridization (arrayCGH) analysis revealed a 22q11.2 microduplication within the fetus' genome. Fluorescence in situ hybridization (FISH) and short tandem repeat polymorphism (STRP) tests indicated the affected fetus inherited the interstitial 22q11.2 microduplication from the mother. High-resolution oligonucleotide microarray analysis showed this microduplication is located in the common 3 Mb 22q11.2 deletion region between positions 17.298 Mb and 20.246 Mb with a length of 2.948 Mb. This report demonstrates the remarkable intrafamilial variability of a 22q11.2 microduplication phenotype. The 22q11.2 microduplication carried by one of the healthy parents has most likely contributed to the recurrent fetal heart defects.
authors.affiliation: Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital of Nanjing Medical University, Nanjing, PR China.
authors.forename: Ping
authors.initials: P
authors.lastname: Hu
authors.forename: Xiuqing
authors.initials: X
authors.lastname: Ji
authors.forename: Chi
authors.initials: C
authors.lastname: Yang
authors.forename: Jingjing
authors.initials: J
authors.lastname: Zhang
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.forename: Jian
authors.initials: J
authors.lastname: Cheng
authors.forename: Dingyuan
authors.initials: D
authors.lastname: Ma
authors.forename: Li
authors.initials: L
authors.lastname: Cao
authors.forename: Long
authors.initials: L
authors.lastname: Yi
authors.forename: Zhengfeng
authors.initials: Z
authors.lastname: Xu
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D005333:Fetus; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D010641:Phenotype; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics* / Q000473:pathology