Literature DB >> 7783176

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

S A Lynch1, K A Ashcroft, S Zwolinski, C Clarke, J Burn.   

Abstract

We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta. The occurrence of Kabuki syndrome in monozygotic twins has not been previously reported and reinforces the belief that this condition has a genetic basis. Chromosomal analysis on the boys showed a pseudodicentric chromosome 13 with an inactive centromere and satellite stalks at 13q12.11: 46,XY,psu dic(13)(13pter-->13q12.11::13p12-->13q11.00:: 13q12.11-->13qter). Their phenotypically normal mother appears to carry the same pseudodicentric chromosome 13.

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Mesh：

Year:  1995        PMID： 7783176      PMCID： PMC1050324          DOI： 10.1136/jmg.32.3.227

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  12 in total

1.  De novo (11;13) translocation.

Authors:  C Fonatsch; S D Flatz
Journal:  Humangenetik       Date:  1975-06-19

2.  Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Authors:  N Philip; P Meinecke; A David; J Dean; S Ayme; R Clark; E Gross-Kieselstein; D Hosenfeld; A Moncla; D Muller
Journal:  Clin Dysmorphol       Date:  1992-04       Impact factor: 0.816

3.  A case of (13q;18q) translocation with proximal 13q monosomy.

Authors:  Y Suzuki; K Ono; S Oka; T Matsubara; M Arima; Y Nakagome
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

Review 4.  Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Authors:  N Niikawa; Y Kuroki; T Kajii; N Matsuura; S Ishikiriyama; H Tonoki; N Ishikawa; Y Yamada; M Fujita; H Umemoto
Journal:  Am J Med Genet       Date:  1988-11

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

Authors:  P E Jardine; L C Burvill-Holmes; W H Schutt; P W Lunt
Journal:  Clin Dysmorphol       Date:  1993-07       Impact factor: 0.816

6.  Three patients with ring (X) chromosomes and a severe phenotype.

Authors:  N R Dennis; A L Collins; J A Crolla; A E Cockwell; A M Fisher; P A Jacobs
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

Review 7.  Familial pericentric inversion of chromosome 13, 46,XX,inv (13)(p13;q11): a new variant.

Authors:  F M Mohammed; D S Krishna Murthy; T I Farag; S A al-Awadi; S A al-Othman; I Hammad
Journal:  Ann Genet       Date:  1993

8.  Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome.

Authors:  F Halal; R Gledhill; A Dudkiewicz
Journal:  Am J Med Genet       Date:  1989-07

9.  Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

Authors:  N Niikawa; N Matsuura; Y Fukushima; T Ohsawa; T Kajii
Journal:  J Pediatr       Date:  1981-10       Impact factor: 4.406

10.  Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors:  B Noel; B Quack; M O Rethore
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438
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  7 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

2.  Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.

Authors:  Y A Zarate; H Zhan; J R Jones
Journal:  Mol Syndromol       Date:  2012-08-30

3.  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:  J Med Genet       Date:  2007-06-23       Impact factor: 6.318

4.  Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report.

Authors:  Maulik Shah; Brian Bogucki; Melissa Mavers; Daphne E deMello; Alan Knutsen
Journal:  BMC Med Genet       Date:  2005-07-25       Impact factor: 2.103

Review 5.  Systematics for types and effects of DNA variations.

Authors:  Mauno Vihinen
Journal:  BMC Genomics       Date:  2018-12-28       Impact factor: 3.969

6.  Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Authors:  Ivon Cuscó; Miguel del Campo; Mireia Vilardell; Eva González; Blanca Gener; Enrique Galán; Laura Toledo; Luis A Pérez-Jurado
Journal:  BMC Med Genet       Date:  2008-04-11       Impact factor: 2.103

Review 7.  The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA.

Authors:  V Barra; D Fachinetti
Journal:  Nat Commun       Date:  2018-10-18       Impact factor: 14.919
  7 in total

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