Inherited 14q duplication and 21q deletion

A rare adjacent-2 segregation in multiple family members

Bhavana J Dave, Ann Haskins Olney, Dianna H. Zaleski, Diane L. Pickering, Troy A. Becker, Hope E. Chipman, Warren G. Sanger

Research output: Contribution to journalArticle

Abstract

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 a CGH studies for accurate identification and elucidation of the abnormality and breakpoints.

Original languageEnglish (US)
Pages (from-to)2248-2253
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number10
DOIs
StatePublished - Oct 1 2009

Fingerprint

Chromosomes
Mothers
Fluorescence In Situ Hybridization
Micrognathism
External Ear
Failure to Thrive
Comparative Genomic Hybridization
Atrial Heart Septal Defects
Centromere
Corpus Callosum
Contracture
Wrist
Karyotype
Ankle
Hip
Parents
Growth
Grandparents

Keywords

  • Adjacent-2 segregation
  • Deletion 21q
  • Duplication 14q
  • FISH
  • T(14;21)
  • aCGH

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Dave, B. J., Olney, A. H., Zaleski, D. H., Pickering, D. L., Becker, T. A., Chipman, H. E., & Sanger, W. G. (2009). Inherited 14q duplication and 21q deletion: A rare adjacent-2 segregation in multiple family members. American Journal of Medical Genetics, Part A, 149(10), 2248-2253. https://doi.org/10.1002/ajmg.a.32999

Inherited 14q duplication and 21q deletion : A rare adjacent-2 segregation in multiple family members. / Dave, Bhavana J; Olney, Ann Haskins; Zaleski, Dianna H.; Pickering, Diane L.; Becker, Troy A.; Chipman, Hope E.; Sanger, Warren G.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 10, 01.10.2009, p. 2248-2253.

Research output: Contribution to journalArticle

Dave, Bhavana J ; Olney, Ann Haskins ; Zaleski, Dianna H. ; Pickering, Diane L. ; Becker, Troy A. ; Chipman, Hope E. ; Sanger, Warren G. / Inherited 14q duplication and 21q deletion : A rare adjacent-2 segregation in multiple family members. In: American Journal of Medical Genetics, Part A. 2009 ; Vol. 149, No. 10. pp. 2248-2253.
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