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Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature.
Genet Couns. 2007; 18(1):113-7.GC

Abstract

We report on a 2-year-old boy presenting the cardinal features of the Kabuky syndrome i.e. peculiar face, short stature moderate mental retardation, padded fingers, padded toes and shawl scrotum. Karyotype was 46, XY. Fish tests for microdeletion: 22q11 and 16q (Rubinstein Tayby) were normal.

Authors+Show Affiliations

Ioan DM
Department of Human Genetics, Institute of Endocrinology, Bucharest, Roumania.
Fryns JP
No affiliation info available

MeSH

Abnormalities, MultipleBronchitisChild, PreschoolCytogenetic AnalysisDevelopmental DisabilitiesFaceFingersHumansMaleSyndromeToes

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

17515307

Citation

Ioan, D M., and J P. Fryns. "Kabuki Syndrome: Description of a 2-year Old Roumanian Boy and Review of the Literature." Genetic Counseling (Geneva, Switzerland), vol. 18, no. 1, 2007, pp. 113-7.
Ioan DM, Fryns JP. Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature. Genet Couns. 2007;18(1):113-7.
Ioan, D. M., & Fryns, J. P. (2007). Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature. Genetic Counseling (Geneva, Switzerland), 18(1), 113-7.
Ioan DM, Fryns JP. Kabuki Syndrome: Description of a 2-year Old Roumanian Boy and Review of the Literature. Genet Couns. 2007;18(1):113-7. PubMed PMID: 17515307.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature. AU - Ioan,D M, AU - Fryns,J P, PY - 2007/5/23/pubmed PY - 2007/6/22/medline PY - 2007/5/23/entrez SP - 113 EP - 7 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 18 IS - 1 N2 - We report on a 2-year-old boy presenting the cardinal features of the Kabuky syndrome i.e. peculiar face, short stature moderate mental retardation, padded fingers, padded toes and shawl scrotum. Karyotype was 46, XY. Fish tests for microdeletion: 22q11 and 16q (Rubinstein Tayby) were normal. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/17515307/Kabuki_syndrome:_description_of_a_2_year_old_Roumanian_boy_and_review_of_the_literature_ L2 - http://www.diseaseinfosearch.org/result/3945 DB - PRIME DP - Unbound Medicine ER -