High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

Journal of Medical Genetics

Volumn 45, Issue 7, 2008, Pages 447-450

  Jehee, F S ^a   Krepischi Santos, A C V ^a   Rocha, K M ^a   Cavalcanti, D P ^b   Kim, C A ^a   Bertola, D R ^a   Alonso, L G ^c   D'Angelo, C S ^a   Mazzeu, J F ^a   Froyen, G ^d,e   Lugtenberg, D ^f   Vianna Morgante, A M ^a   Rosenberg, C ^a   Passos Bueno, M R ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF CAMPINAS   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME SATELLITE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; GENE AMPLIFICATION; GENE DUPLICATION; GENETIC ANALYSIS; GENOME ANALYSIS; HUMAN; INCIDENCE; KARYOTYPE; MOLECULAR PROBE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; TRISOMY;

CHROMOSOME ABERRATIONS; CHROMOSOME SEGREGATION; CRANIOSYNOSTOSES; HUMANS; KARYOTYPING; MICROSATELLITE REPEATS; NUCLEIC ACID HYBRIDIZATION; POLYMORPHISM, GENETIC;

EID: 47149117787     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.057042     Document Type: Article

References (15)

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