Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child. |
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Authors: | J C Lapière A Verloes C Herens J Delfortrie L Van Maldergem Y Gillerot L Koulischer |
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Affiliation: | Center for Human Genetics, Liège University, Belgium. |
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Abstract: | We report a severely mentally retarded, dysmorphic girl aged 7 years with a 47,XX, +der(18), t(10;18)(p11.2;q11.2)mat. The phenotype of our patient is compared with 6 cases of trisomy 10p and 10 cases of trisomy 18q- from the literature. The short trisomic segment 10pter-10p11 appears to affect more the phenotype than the trisomic segment 18qter-q11. |
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