How to Cite this Article: Zhu H, Hu Y, Zhu R, Yang Y, Zhu X, Wang W. 2012. A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies. Am J Med Genet Part A 161A:327–330.
A boy with partial trisomy of chromosome 3q24–q28 from paternal balanced insertion and multiple congenital anomalies†
Article first published online: 15 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 2, pages 327–330, February 2013
How to Cite
Zhu, H., Hu, Y., Zhu, R., Yang, Y., Zhu, X. and Wang, W. (2013), A boy with partial trisomy of chromosome 3q24–q28 from paternal balanced insertion and multiple congenital anomalies. Am. J. Med. Genet., 161: 327–330. doi: 10.1002/ajmg.a.35637
- Issue published online: 24 JAN 2013
- Article first published online: 15 JAN 2013
- Manuscript Accepted: 30 JUL 2012
- Manuscript Received: 30 APR 2012
- Special Research Grant (XK201102) for the Key Laboratory from the Department of Health, and a Special Grant (BL2012015) from the Department of Science and Technology, Jiangsu Province, China
- duplication 3q syndrome;
- mental retardation;
- developmental delay;
- cytogenetic analysis;
- SNP-array analysis
Although many patients with duplication 3q syndrome have been described reports on duplication derivatives from an insertion are rare in the previous literature. Here we describe the genotype and phenotype of a 32-month-old boy with a partial trisomy of 3q24–q28. We carefully mapped the aberration with SNP-array analysis, and found a duplication region of 44 Mb. By conventional cytogenetic techniques including fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) analysis, the patient was found to have inherited a derivative chromosome 6 from his father, which was contained a direct insertion from 3q24–28. The main clinical features of the patient included severe mental retardation, postnatal developmental delay, ventricular septal defect (VSD), and craniofacial anomalies including cleft palate, frontal bossing, hypertelorism, and a broad nasal bridge. The symptoms partially overlap with previously reported patients with duplication in the same region. Prenatal diagnosis for the fetus of this family was performed based on the results of genetic tests and ultrasonic evaluation. © 2013 Wiley Periodicals, Inc.