Partial trisomy 10q |
| |
| Authors: | Johanna M Klep-de Pater Jan B Bijlsma Henny F de France Nico J Leschot Mia Duijndam-van den Berge Jan O van Hemel |
| |
| Institution: | (1) Observation Clinic De Ederhorst, Horalaan 5, Ede, The Netherlands;(2) Department of Human Genetics, University of Amsterdam, Sarphatistraat 217, Amsterdam, The Netherlands;(3) Psychiatric Hospital Endegeest, Oegstgeest, The Netherlands;(4) Center of Clinical Cytogenetics, State University Utrecht, Nieuwe Gracht 137, Utrecht, The Netherlands |
| |
| Abstract: | Summary Five cases from two nonrelated families with partial trisomy 10q due to a reciprocal translocation t(10;17)(q25;p13) and t(10;11)(q24;q23), respectively, are reported. The phenotypic findings are compared with those of 17 previously published cases; the clinical data justify the conclusion that cases with trisomy 10q show a specific syndrome of mental retardation and malformation characterized by psychomotor retardation, growth retardation, hypotonia, high forehead, flat face, fine and arched eyebrows, antimongoloid slant of the eyes, narrow palpebral fissures, hypertelorism, short nose, bowshaped mouth, short neck, (kypho)scoliosis, and in some cases microcephaly. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
