Kabuki syndrome and trisomy 10p.
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.
Utine
G E
GE
Hacettepe University, Faculty of Medicine, Department of Pediatrics, Clinical Genetics Unit, S1hhiye, Ankara, Turkiye. geutine@hacettepe.edu.tr
Alanay
Y
Y
Atkaş
D
D
Boduroğlu
K
K
Alikaşifoğlu
M
M
Tunçbilek
E
E
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*