Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child.
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.
Lapière
J C
JC
Center for Human Genetics, Liège University, Belgium.
Verloes
A
A
Herens
C
C
Delfortrie
J
J
Van Maldergem
L
L
Gillerot
Y
Y
Koulischer
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002879:Chromosomes, Human, Pair 10; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*