Duplication/deletion mosaicism of the 7q(21.1→313) region

American Journal of Medical Genetics, Part A

Volumn 143, Issue 2, 2007, Pages 179-183

  Morales, Carme ^a,b   Madrigal, Irene ^a,c   Esqué, Teresa ^a   De La Fuente, José Eugenio ^a   Rodríguez, José Manuel ^a   Margarit, Ester ^a,c   Soler, Anna ^a,c   Sánchez, Aurora ^a,c  

^a HOSPITAL CLÍNIC   (Spain)

^b Fundació hospital   (Spain)

^c INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

Chromosome 7q deletion; Chromosome 7q duplication; Mosaicism; Psychomotor retardation; Urinary epithelial cells culture

Indexed keywords

ARTICLE; BLOOD CELL; CASE REPORT; CELL LINE; CHROMOSOME 7Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME G BAND; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME MOSAICISM; CONGENITAL MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL GENETICS; EPITHELIUM CELL; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; INFANT; KARYOTYPING; MALE; METAPHASE CHROMOSOME; MITOSIS; MONOSOMY 7; POSTNATAL DEVELOPMENT; PRENATAL DEVELOPMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; STRUCTURAL CHROMOSOME ABERRATION; TRISOMY 7; ZYGOTE;

ADULT; ARM; CELLS, CULTURED; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; CYTOGENETIC ANALYSIS; EPITHELIAL CELLS; FEMALE; GENE DUPLICATION; HAND; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; MOSAICISM; PSYCHOMOTOR DISORDERS; SKULL; URINE;

EID: 33845988780     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31570     Document Type: Article

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