Article
Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1992
Lapière J C, Verloes A, Herens C, Delfortrie J, Van Maldergem L, Gillerot Y, Koulischer L
Abstract excerpt
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 m...
Topics
- Abnormalities, Multiple
- Child
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 18
- Female
- Humans
- Intellectual Disability
- Karyotyping
- Phenotype
- Trisomy
