PMID: 9637424Jun 24, 1998Paper

Interstitial Dup(1p) with findings of Kabuki make-up syndrome

American Journal of Medical Genetics
I F LoS T Lam

Abstract

We describe a male patient with interstitial duplication of the short arm of chromosome 1 with breakpoints involving 1p13.1 and 1p22.1. The patient presented with some clinical findings of Kabuki make-up syndrome (KMS), including mental retardation, small head, eversion of the lateral part of lower eyelids, epicanthic folds, lateral flare of the eyebrows, short columella, and persistent fetal finger pads. This cytogenetic finding may provide clues for gene mapping of the syndrome.

References

Jan 1, 1976·Cytogenetics and Cell Genetics·R S VermaH A Lubs
Mar 26, 1976·Science·J J Yunis
Jan 1, 1987·Klinische Pädiatrie·M SchürmannE Schwinger
Mar 1, 1989·American Journal of Medical Genetics·F M MohammedT S Sundareshan
Nov 1, 1988·American Journal of Medical Genetics·N NiikawaH Umemoto
Nov 1, 1994·American Journal of Medical Genetics·J P FrynsC Schrander-Stumpel
Oct 1, 1994·Clinical Dysmorphology·D G Wellesley, S Slaney
Jun 1, 1993·Journal of Medical Genetics·N R DennisP A Jacobs
Nov 20, 1995·American Journal of Medical Genetics·E Galán-GómezJ L Frías
Nov 20, 1995·American Journal of Medical Genetics·L HoechstetterE K Schorry

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Citations

Jun 26, 2007·Journal of Medical Genetics·Nicole M C MaasJoris R Vermeesch
Jan 1, 2009·BMJ Case Reports·Nicole M C MaasJoris R Vermeesch
Nov 1, 2007·European Journal of Human Genetics : EJHG·Barbara R MigeonPatricia A Jacobs
Feb 4, 2005·American Journal of Medical Genetics. Part a·Constance Th R M Schrander-StumpelJaap J P Schrander
Nov 8, 2012·Clinical Genetics·N Bögershausen, B Wollnik
Oct 24, 2007·Fertility and Sterility·Chih-Ping ChenWayseen Wang
Feb 5, 2005·Clinical Genetics·M P Adam, L Hudgins
Jun 15, 2011·American Journal of Medical Genetics. Part a·Daphne LehalleJill Clayton-Smith
Jul 5, 2006·Fertility and Sterility·Osman Demirhan, Deniz Tastemir
Aug 19, 2015·The Journal of Clinical Investigation·Nina BögershausenBernd Wollnik
Jun 17, 2016·Revista da Associação Médica Brasileira·Wellcy Gonçalves TeixeiraMaíra Cristina Menezes Freire
Feb 1, 2017·Clinical Genetics·C Lintas, A M Persico
Sep 13, 2000·American Journal of Medical Genetics·M M van HaelstP J Willems
May 11, 2002·Clinical Dysmorphology·Marja W WesselsPatrick J Willems
Mar 3, 2004·American Journal of Medical Genetics. Part a·Enrique Galán-GómezJaime L Frías
Sep 9, 2017·American Journal of Medical Genetics. Part a·Maria Cristina DigilioBruno Dallapiccola
Sep 2, 2003·American Journal of Medical Genetics. Part a·Sabine SchererManfred Rister
Feb 1, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Naomichi Matsumoto, Norio Niikawa
Feb 4, 2005·American Journal of Medical Genetics. Part a·Linlea ArmstrongJudith E Allanson

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