Maternally inherited partial monosomy 9p (pter→p24.1) and partial trisomy 20p (pter→p12.1) characterized by microarray comparative genomic hybridization

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2754-2761

  Freitas, Érika L ^a,b   Gribble, Susan M ^c   Simioni, Milena ^a   Vieira, Társis P ^a   Silva Grecco, Roseane L ^d   Balarin, Marly A S ^d   Prigmore, Elena ^c   Krepischi Santos, Ana C ^b,e   Rosenberg, Carla ^b   Szuhai, Karoly ^f   van Haeringen, Arie ^f   Carter, Nigel P ^c   Gil da Silva Lopes, Vera Lúcia ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d FEDERAL UNIVERSITY OF TRIÂNGULO MINEIRO   (Brazil)

^e A C CAMARGO CANCER CENTER   (Brazil)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Array CGH; Chromosomal aberration; Midline; Monosomy 9p; Multiple congenital anomalies; Trisomy 20p

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENE MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; EXTRACHROMOSOMAL INHERITANCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FUNCTION; HUMAN; HYPERTELORISM; MACROSOMIA; MALE; MICROARRAY ANALYSIS; MOLECULAR CLONING; MOLECULAR PATHOLOGY; PARTIAL MONOSOMY; PARTIAL MONOSOMY 9; PARTIAL TRISOMY; PARTIAL TRISOMY 20; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TOOTH MALFORMATION;

ABNORMAL KARYOTYPE; ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; CHROMOSOMES, HUMAN, PAIR 9; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FORKHEAD TRANSCRIPTION FACTORS; GENOME, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INHERITANCE PATTERNS; INTELLECTUAL DISABILITY; MALE; METAPHASE; PHYSICAL EXAMINATION; TRISOMY;

EID: 80054916619     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34168     Document Type: Article

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