Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB

American Journal of Medical Genetics
E MagenisM Yoshitomi

Abstract

A complex de novo translocation was found in leukocytes and fibroblasts from a boy with mental retardation and minor abnormalities. The 45,XY chromosome constitution found in all cells was initially interpreted from routine G- and Q-banding techniques as a balanced translocation of part of the short arm of 12 to the short arm of 15 and of the long arm of 21 to the short arm of 12. With additional staining techniques and use of prometaphase chromosome preparations, it was determined that the distal portion of band 12.3 of the short arm of chromosome 12 was missing from the 12/15 and the 12/21 translocation chromosomes. This interpretation was confirmed by a decreased concentration of the LDH-B subunit in lactate dehydrogenase isozymes of the patient's fibroblasts, consistent with his being hemizygous for the LDHB locus.

References

Jan 1, 1979·Cytogenetics and Cell Genetics·M L Law, F T Kao
Mar 26, 1976·Science·J J Yunis
Jan 1, 1971·Cytogenetics·F E Arrighi, T C Hsu
Jan 15, 1966·Nature·R A Fildes, H Harris
Jan 1, 1980·Human Genetics·J Chamberlin, R E Magenis

❮ Previous
Next ❯

Citations

Sep 1, 1983·Cell Differentiation·M Galdieri, L Monaco
Jul 1, 1987·Journal of Medical Genetics·D R RomainR G Parfitt
Jul 1, 1990·American Journal of Medical Genetics·A BaronciniA Forabosco
Feb 3, 2004·American Journal of Medical Genetics. Part a·Clotilde Lagier-TourenneE Jeandidier
Oct 1, 1984·American Journal of Medical Genetics·S Schwartz, C G Palmer
Dec 1, 1985·American Journal of Medical Genetics·J D KivlinM S Williams
Nov 15, 1994·American Journal of Medical Genetics·D A BatistaG Stetten
May 27, 2010·American Journal of Medical Genetics. Part a·A H MacdonaldM L Martínez-Frías
Jul 1, 1987·Journal of Medical Genetics·A E DonnenfeldB S Emanuel

❮ Previous
Next ❯

Related Concepts

Related Feeds

Absence Epilepsy

Absence epilepsy is a common seizure disorder in children which can produce chronic psychosocial sequelae. Discover the latest research on absence epilepsies here.