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Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child.
Authors:J C Lapière  A Verloes  C Herens  J Delfortrie  L Van Maldergem  Y Gillerot  L Koulischer
Affiliation:Center for Human Genetics, Liège University, Belgium.
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.
Keywords:
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