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

Autor:	Jc, Lapière, Alain VERLOES, Herens C, Delfortrie J, Van Maldergem L, Gillerot Y, Koulischer L
Rok vydání:	1992
Předmět:	Phenotype Chromosomes Human Pair 10 Intellectual Disability Karyotyping Humans Abnormalities Multiple Female Trisomy Child Chromosomes Human Pair 18
Zdroj:	Europe PubMed Central
ISSN:	1015-8146
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e716fb97701b1a7f8422c7ccff6535b1 https://pubmed.ncbi.nlm.nih.gov/1388935 Zobrazit plný text záznamu