FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour

被引：30
作者：
Finelli, P
Natacci, F
Bonati, MT
Gottardi, G
Engelen, JJM
de Die-Smulders, CEM
Sala, M
Giardino, D
Larizza, L
机构：
[1] Ist Auxol Italiano, Lab Med Cytogenet & Mol Genet, I-20145 Milan, Italy
[2] Univ Milan, Dept Biol & Genet, Milan, Italy
[3] Fdn Inst Sacra Famiglia, Cesano Boscone, Italy
[4] Ist Clin Perfezionamento, Med Genet Serv, Milan, Italy
[5] Ist Auxol Italiano, Clin Med Genet, Milan, Italy
[6] Univ Maastricht, Dept Clin Genet, Res Inst Growth & Dev, Maastricht, Netherlands
来源：
JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 07期
关键词：
D O I：
10.1136/jmg.2003.016311
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：6
相关论文
共 27 条
[1]   A PANEL OF SUBCHROMOSOMAL PAINTING LIBRARIES REPRESENTING OVER 300 REGIONS OF THE HUMAN GENOME [J].
ANTONACCI, R ;
MARZELLA, R ;
FINELLI, P ;
LONOCE, A ;
FORABOSCO, A ;
ARCHIDIACONO, N ;
ROCCHI, M .
CYTOGENETICS AND CELL GENETICS, 1995, 68 (1-2) :25-32
[2]   Recent segmental duplications in the human genome [J].
Bailey, JA ;
Gu, ZP ;
Clark, RA ;
Reinert, K ;
Samonte, RV ;
Schwartz, S ;
Adams, MD ;
Myers, EW ;
Li, PW ;
Eichler, EE .
SCIENCE, 2002, 297 (5583) :1003-1007
[3]  
Cao YC, 1999, GENOME RES, V9, P763
[4]   DUPLICATION OF 16P FROM INSERTION OF 16P INTO 16Q WITH SUBSEQUENT DUPLICATION DUE TO CROSSING OVER WITHIN THE INSERTED SEGMENT [J].
COHEN, MM ;
LERNER, C ;
BALKIN, NE .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 14 (01) :89-96
[5]   Defining the broader phenotype of autism: Genetic, brain, and behavioral perspectives [J].
Dawson, G ;
Webb, S ;
Schellenberg, GD ;
Dager, S ;
Friedman, S ;
Aylward, E ;
Richards, T .
DEVELOPMENT AND PSYCHOPATHOLOGY, 2002, 14 (03) :581-611
[6]   Divergent origins and concerted expansion of two segmental duplications on chromosome 16 [J].
Eichler, EE ;
Johnson, ME ;
Alkan, C ;
Tuzun, E ;
Sahinalp, C ;
Misceo, D ;
Archidiacono, N ;
Rocchi, M .
JOURNAL OF HEREDITY, 2001, 92 (06) :462-468
[7]   Duplication of chromosome region (16)(p11.2 → p12.1) in a mother and daughter with mild mental retardation [J].
Engelen, JJM ;
de Die-Smulders, CEM ;
Dirckx, R ;
Verhoeven, WMA ;
Tuinier, S ;
Curfs, LMG ;
Hamers, AJH .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 109 (02) :149-153
[8]  
Gillberg C., 2000, The biology of the autistic syndromes
[9]   PARTIAL TRISOMY 16P IN AN ADOLESCENT WITH AUTISTIC DISORDER AND TOURETTES-SYNDROME [J].
HEBEBRAND, J ;
MARTIN, M ;
KORNER, J ;
ROITZHEIM, B ;
DEBRAGANCA, K ;
WERNER, W ;
REMSCHMIDT, H .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 54 (03) :268-270
[10]   Up-regulated expression of a novel gene in activated human peripheral blood mononuclear cells that is a truncated paralog of the human system L-amino acid transporter 1 [J].
Ito, M ;
Takebayashi, SI ;
Okumura, K ;
Ohkubo, T ;
Nishio, M ;
Kawano, M ;
Komada, H ;
Ito, Y ;
Tsurudome, M .
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY, 2002, 34 (09) :1152-1163
123