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Partial monosomy 4q and partial trisomy 13q: phenotype and molecular mapping of the breakpoints (CROSBI ID 561677)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija

Wagner, J ; Dorner, S ; Stipoljev, F ; Skrlec, I ; Lauc, G ; Weise, A ; Mrasek, K ; Liehr, T ; Brecevic, L Partial monosomy 4q and partial trisomy 13q: phenotype and molecular mapping of the breakpoints // Chromosome research / Herbert C. Macgregor (ur.). 2009. str. S32-S32

Podaci o odgovornosti

Wagner, J ; Dorner, S ; Stipoljev, F ; Skrlec, I ; Lauc, G ; Weise, A ; Mrasek, K ; Liehr, T ; Brecevic, L

engleski

Partial monosomy 4q and partial trisomy 13q: phenotype and molecular mapping of the breakpoints

Phenotype in patients with segmental aneuploidy often vary in their clinical manifestation depending on the size of the chromosomal region involved. Deletions of chromosome regions 4q31, 4q32, and 4q33-4qter lead to a distinctive malformation syndrome (deletion 4q syndrome) of facial dysmorphism, cardiac and limb defects and developmental delay. More distal 4q deletions involving bands q34–q35 have been found in patients presenting with less characteristic features and less severe mental retardation. Partial trisomy 13q (13q14-qter) has also been shown to cause a characteristic phenotype associated with severe mental deficiency resembling that of trisomy 13. Although del4q and dup13q syndromes vary in their phenotypes, they have also several features in common. Herein presented are the clinical and molecular findings in a 1-year-old female with a karyotype 46, XX, der(4)t(4 ; 13)(q34.1 ; q14.3)mat, whose phenotype exhibits the features of the two distinctive syndromes. The chromosome breakpoints and the size of segments involved in the rearrangement were determined by FISH applying chromosome 4 and 13 specific molecular banding (MCB), subtelomeric probes for 13qter and 4qter, and BACs mapped to 13q21.1 and 13q14.3, respectively. According to the labeling scheme for all 169 arraymapped MCB libraries (Weise et al., 2008) it was estimated that the duplication encompassed 73.95 Mb of 13q, and the deletion 4 14.6 Mb of chromosome. Reporting of further cases with very good clinical and molecular characterization will add to a more precise description of the deletion 4q syndrome and will pinpoint the critical region on chromosome 13 responsible for trisomy 13.

Segmental aneuploidy ; deletion 4q syndrome ; partial trisomy 13q ; molecular banding ; MCB ; subtelomeric probes

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Podaci o prilogu

S32-S32.

2009.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

Chromosome research

Herbert C. Macgregor

Springer

0967-3849

Podaci o skupu

Seventh European Cytogenetics Conference

poster

04.07.2009-07.07.2009

Stockholm, Švedska

Povezanost rada

Kliničke medicinske znanosti, Temeljne medicinske znanosti

Indeksiranost