Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child

J C Lapière; A Verloes; C Herens; J Delfortrie; L Van Maldergem; Y Gillerot; L Koulischer

Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child

Genet Couns. 1992;3(3):155-9.

Authors

J C Lapière¹, A Verloes, C Herens, J Delfortrie, L Van Maldergem, Y Gillerot, L Koulischer

Affiliation

¹ Center for Human Genetics, Liège University, Belgium.

PMID: 1388935

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Child
Chromosomes, Human, Pair 10*
Chromosomes, Human, Pair 18*
Female
Humans
Intellectual Disability / genetics*
Karyotyping
Phenotype
Trisomy / genetics*