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Kabuki syndrome and trisomy 10p.
Genet Couns. 2008; 19(3):291-300.GC

Abstract

Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause. There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalies and 5) dermatoglyphic abnormalities. Kabuki syndrome remains a clinical diagnosis despite significant research on detection of the genetic cause. We present 10 patients with Kabuki syndrome with a brief overview of the syndrome. An additional male patient and his affected aunt, both with trisomy 10p due to unbalanced segregation of a familial translocation, are also discussed for overlapping features and differential clinical diagnosis of the two conditions. Considering a significant overlap in clinical pictures of Kabuki syndrome and trisomy 10p in these two patients, as well as the previous patients with chromosomal abnormalities, we conclude that chromosome analysis is an important step in clinical work-up of patients with Kabuki syndrome.

Authors+Show Affiliations

Hacettepe University, Faculty of Medicine, Department of Pediatrics, Clinical Genetics Unit, S1hhiye, Ankara, Turkiye. geutine@hacettepe.edu.trNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18990985

Citation

Utine, G E., et al. "Kabuki Syndrome and Trisomy 10p." Genetic Counseling (Geneva, Switzerland), vol. 19, no. 3, 2008, pp. 291-300.
Utine GE, Alanay Y, Atkaş D, et al. Kabuki syndrome and trisomy 10p. Genet Couns. 2008;19(3):291-300.
Utine, G. E., Alanay, Y., Atkaş, D., Boduroğlu, K., Alikaşifoğlu, M., & Tunçbilek, E. (2008). Kabuki syndrome and trisomy 10p. Genetic Counseling (Geneva, Switzerland), 19(3), 291-300.
Utine GE, et al. Kabuki Syndrome and Trisomy 10p. Genet Couns. 2008;19(3):291-300. PubMed PMID: 18990985.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Kabuki syndrome and trisomy 10p. AU - Utine,G E, AU - Alanay,Y, AU - Atkaş,D, AU - Boduroğlu,K, AU - Alikaşifoğlu,M, AU - Tunçbilek,E, PY - 2008/11/11/pubmed PY - 2009/1/24/medline PY - 2008/11/11/entrez SP - 291 EP - 300 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 19 IS - 3 N2 - Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause. There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalies and 5) dermatoglyphic abnormalities. Kabuki syndrome remains a clinical diagnosis despite significant research on detection of the genetic cause. We present 10 patients with Kabuki syndrome with a brief overview of the syndrome. An additional male patient and his affected aunt, both with trisomy 10p due to unbalanced segregation of a familial translocation, are also discussed for overlapping features and differential clinical diagnosis of the two conditions. Considering a significant overlap in clinical pictures of Kabuki syndrome and trisomy 10p in these two patients, as well as the previous patients with chromosomal abnormalities, we conclude that chromosome analysis is an important step in clinical work-up of patients with Kabuki syndrome. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/18990985/Kabuki_syndrome_and_trisomy_10p_ L2 - http://www.diseaseinfosearch.org/result/3945 DB - PRIME DP - Unbound Medicine ER -