Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3)

• Authors: E. Bocian , K. Suchenek , E. Obersztyn , B. Nowakowska , T. Mazurczak
• Languages of publication: EN

Abstracts

EN

We present a family with three cases of recombination aneusomy rec(5)dup(5q) originating from a large parental pericentric inversion of chromosome 5. The proband ? a 6-year-old girl with mental retardation, speech delay, microcephaly, and slight facial dysmorphism ? was referred for subtelomere testing. FISH with a Multiprobe Chromoprobe T System (CytoCell) and with several BAC clones mapping to both subtelomere regions of chromosome 5, revealed a recombinant chromosome rec(5)dup(5q) originating from a paternal pericentric inversion inv(5)(p15.33q35.3). The same inversion was present in the proband's father's twin-brother and rec(5)dup(5q) was also identified in his two mentally retarded daughters. The distance of breakpoints from the telomere was: 0.234?1.4 Mb for 5p and 4.1?4.8 Mb for 5q. HR-CGH analysis confirmed the duplication of the 5q subtelomeric region but did not identify any concomitant deletion in the 5p subtelomere. Precise mapping of the aneusomic regions in the proband enabled mapping the cat cry and speech delay to 5p15.33, making the earlier localizations of these features more precise. Our family shows that the large pericentric inversion with both breakpoints at subtelomeric regions of chromosome 5 is associated with a high risk of rec(5)dup(5q) in the progeny.

Keywords

EN

CHROMOSOME 5; MENTAL RETARDATION; RECOMBINATION ANEUSOMY; SUBTELOMERIC REGION

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2005
• Volume: 46
• Issue: 1
• Pages: 109-114

Contributors

author

E. Bocian

author

K. Suchenek

author

E. Obersztyn

author

B. Nowakowska

author

T. Mazurczak

• Document Type: SHORT REPORT
• Publication order reference: Ewa Bocian, Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warszawa, Poland