Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome

Molecular Genetics and Genomics

Volumn 289, Issue 6, 2014, Pages 1037-1043

  Zanardo, Évelin Aline ^a   Piazzon, Flavia Balbo ^a   Dutra, Roberta Lelis ^a   Dias, Alexandre Torchio ^a   Montenegro, Marília Moreira ^a   Novo Filho, Gil Monteiro ^a   Costa, Thaís Virgínia Moura Machado ^a   Nascimento, Amom Mendes ^a   Kim, Chong Ae ^a   Kulikowski, Leslie Domenici ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

1p36 syndrome; Chromoanagenesis; Complex structural rearrangement; Copy number variation; Cytogenomic techniques

Indexed keywords

GENOMIC DNA;

1P36 DELETION SYNDROME; ANTEVERTED NOSTRIL; CASE REPORT; CHROMOANAGENESIS; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CLINODACTYLY; CONTROLLED STUDY; CYTOGENETICS; EPICANTHUS; FEMALE; FOREHEAD; HUMAN; HYPERTELORISM; HYPERTRICHOSIS; INFANT; LOW SET EAR; METAPHASE CHROMOSOME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PALATE MALFORMATION; PERCEPTION DEAFNESS; PULMONARY ARTERY STENOSIS; REAL TIME POLYMERASE CHAIN REACTION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURAL CHROMOSOME ABERRATION; TOOTH MALFORMATION; CHROMOSOME 1; CHROMOSOME DISORDER; GENETICS;

CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 1; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; INFANT;

EID: 84919723909     PISSN: 16174615     EISSN: 16174623     Source Type: Journal    
DOI: 10.1007/s00438-014-0876-7     Document Type: Review

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