"DE NOVO" TRISOMY OF THE SHORT ARM OF CHROMOSOME 9 (9P TRISOMY). CASE REPORT
The authors report the case of a 2 year 9 month old girl with neurodevelopmental delay and dysmorphic facial features: microcephaly, high and arched forehead, proeminence of the metopic suture, enophtalmya, micrognatia, big and malformed ears with low insertion. Classic Cytogenetic analysis with G b...
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| Main Authors: | , |
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| Format: | Book |
| Published: |
Amaltea Medical Publishing House,
2009-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | The authors report the case of a 2 year 9 month old girl with neurodevelopmental delay and dysmorphic facial features: microcephaly, high and arched forehead, proeminence of the metopic suture, enophtalmya, micrognatia, big and malformed ears with low insertion. Classic Cytogenetic analysis with G banding revealed the following chromosomial formula: 46, XX de r(15)(9p ter ® 9p 11::15p 12 ® 15q ter), meaning that some additional material that correspond to the short arm of chromosome 9 is translocated to the 15 chromosome. The FISH test confirmed the presence of triplication in this patient. Normal karyotype was present in parents and sibling. |
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| Item Description: | 10.37897/RJP.2009.2.14 1454-0398 2069-6175 |