Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion invInstitute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland[p15.33q35.3]

• Autorzy: Bocian E , Suchenek K , Obersztyn E , Nowakowska B , Mazurczak T
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

pericentric inversion; mental retardation; medical genetics; recombination aneusomy; subtelomeric region; chromosome 5 inversion

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2005
• Tom: 46
• Numer: 1
• Opis fizyczny: p.109-114,fig.,ref.

Twórcy

autor

Bocian E

• Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland

autor

Suchenek K

• Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland

autor

Obersztyn E

• Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland

autor

Nowakowska B

• Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland

autor

Mazurczak T

• Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland

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