Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome

Autor:	P E, Jardine, L C, Burvill-Holmes, W H, Schutt, P W, Lunt
Rok vydání:	1993
Předmět:	Male Chromosomes Human Pair 12 Monosomy Intellectual Disability Karyotyping Humans Infant Abnormalities Multiple Chromosomes Human Pair 6 Trisomy Syndrome
Zdroj:	Clinical dysmorphology. 2(3)
ISSN:	0962-8827
Popis:	Kabuki make-up syndrome (KMS) is a mental retardation/congenital malformation syndrome of unknown aetiology. We report a child with the unbalanced karyotype 46,XY,-6,+der(6)t(6;12) (q25.3;q24.31)mat. who has several features of KMS and suggest a possible cause for this condition.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::765a110c3e0faa9615e517a95cbfe979 https://pubmed.ncbi.nlm.nih.gov/8287190 Zobrazit plný text záznamu