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Literature DB >> 8287190

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

P E Jardine¹, L C Burvill-Holmes, W H Schutt, P W Lunt.

Abstract

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.

Entities: Disease Species

Mesh：

Year: 1993 PMID： 8287190

Source DB: PubMed Journal: Clin Dysmorphol ISSN： 0962-8827 Impact factor: 0.816

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Cited

4 in total

1. The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Authors: Nicole M C Maas; Tom Van de Putte; Cindy Melotte; Annick Francis; Constance T R M Schrander-Stumpel; Damien Sanlaville; David Genevieve; Stanislas Lyonnet; Boyan Dimitrov; Koenraad Devriendt; Jean-Pierre Fryns; Joris R Vermeesch
Journal: BMJ Case Rep Date: 2009-06-30

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

1. The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

2. Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.

3. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.

4. The C20orf133 gene is disrupted in a patient with Kabuki syndrome.