How to cite this article: Dave BJ, Olney AH, Zaleski DH, Pickering DL, Becker TA, Chipman HE, Sanger WG. 2009. Inherited 14q duplication and 21q deletion: A rare adjacent-2 segregation in multiple family members. Am J Med Genet Part A 149A:2248–2253.
Inherited 14q duplication and 21q deletion: A rare adjacent-2 segregation in multiple family members†
Article first published online: 16 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2248–2253, October 2009
How to Cite
Dave, B. J., Olney, A. H., Zaleski, D. H., Pickering, D. L., Becker, T. A., Chipman, H. E. and Sanger, W. G. (2009), Inherited 14q duplication and 21q deletion: A rare adjacent-2 segregation in multiple family members. Am. J. Med. Genet., 149A: 2248–2253. doi: 10.1002/ajmg.a.32999
- Issue published online: 24 SEP 2009
- Article first published online: 16 SEP 2009
- Manuscript Accepted: 3 JUN 2009
- Manuscript Received: 30 DEC 2008
- adjacent-2 segregation;
- deletion 21q;
- duplication 14q;
We present a family with multiple carriers of a subtle balanced translocation t(14;21)(q21.2;q21.2) and three patients with a resultant adjacent-2 malsegregation containing a +der(14)t(14;21)(q21.2;q21.2),-21 in their chromosome complement. The initial study was performed when a 2-month-old female was referred to genetics clinic for evaluation of developmental delay, growth retardation, and failure to thrive. Physical findings included prominent eyes, micrognathia, prominent and simple external ears, camptodactyly, contractures of the wrists, ankles, and hips, hypoplasia of the corpus callosum, prominent atria and occipital horns, cerebellopontine hypoplasia; and small atrial septal defect. High resolution chromosomes showed an extra band on the proximal 21q and fluorescence in situ hybridization (FISH) demonstrated only one signal for the centromere of 21. Karyotypes of the parents and grandparents revealed that the mother and maternal grandfather were carriers of a balanced translocation, and the propositus contained an unbalanced chromosome complement with partial duplication of proximal 14q and partial deletion of proximal 21q. Investigations performed on an institutionalized maternal aunt revealed identical karyotypic abnormalities as in the propositus. More recently, array comparative genomic hybridization (aCGH) on a subsequent child with multiple congenital anomalies further out in the extended family allowed for more accurate identification of the breakpoints. Our investigation includes analysis on a total of 11 family members spanning three generations. Among those investigated, there were no living members with other possible consequential unbalanced translocations or with adjacent-2 segregation resulting in −14,+der(21). Chromosome rearrangements require FISH and aCGH studies for accurate identification and elucidation of the abnormality and breakpoints. © 2009 Wiley-Liss, Inc.