skip to main content
OSTI.GOV title logo U.S. Department of Energy
Office of Scientific and Technical Information

Title: Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma

Journal Article · · American Journal of Medical Genetics
; ; ;  [1]
  1. Univ. of Michigan, Ann Arbor, MI (United States)

This is the first reported case of an unbalanced chromosome rearrangement resulting in trisomy 5q35.5{r_arrow}qter and monosomy 16p 13.3{r_arrow}pter, in a boy with mental and growth retardation, minor anomalies, and a history of bilateral papillary thyroid carcinoma. This was the result of a familial balanced translocation. The clinical and cytogenetic manifestations of the case are presented and the possible role of the chromosomal rearrangement in the etiology of the thyroid carcinoma is discussed. 25 refs., 5 figs., 1 tab.

Sponsoring Organization:
USDOE
OSTI ID:
96085
Journal Information:
American Journal of Medical Genetics, Vol. 49, Issue 3; Other Information: PBD: 1 Feb 1994
Country of Publication:
United States
Language:
English

Similar Records

Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring
Journal Article · Mon Apr 14 00:00:00 EDT 1997 · American Journal of Medical Genetics · OSTI ID:96085

Monosomy 9p24{r_arrow}pter and trisomy 5q31{r_arrow}qter: Case report and review of two cases
Journal Article · Mon May 22 00:00:00 EDT 1995 · American Journal of Medical Genetics · OSTI ID:96085

Jumping translocation in a newborn boy with dup(4q) and severe hydrops fetalis
Journal Article · Mon Aug 15 00:00:00 EDT 1994 · American Journal of Medical Genetics · OSTI ID:96085