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Trisomy 9p in a patient with a de novo 9/15 translocation

✍ Scribed by Petrea Jacobsen; Niels Hobolth; Margareta Mikkelsen

Book ID
119838226
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
630 KB
Volume
7
Category
Article
ISSN
0009-9163

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πŸ“œ SIMILAR VOLUMES

Trisomy 9p resulting from de novo 9/15 t
Trisomy 9p resulting from de novo 9/15 translocation and a 9p isochromosome
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Trisomy 9p with de novo 9/15 translocation and 9p isochromosome was observed in a mentally defective boy with typical clinical features for this syndrome. This chromosomal aberration is probably caused by the pericentric inversion of chromosome 9 of the patient's father.

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A new case of partial trisomy 9q was found in a child presenting two de novo aberrations: a deletion of the long arms of 9 and a 9,21 translocation. A tentative cytogenetic explanation is put forward.

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A case of X-autosome translocation was diagnosed prenatally [46,X,t(X;9)(p21.3∼ 22.1;q22]. We describe the use of fluorescence in situ hybridization (FISH) to estimate the integrity of the Duchenne muscular dystrophy (DMD) gene. X-inactivation studies were used as well to assess the probability of p