A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines

European Journal of Medical Genetics

Volumn 50, Issue 4, 2007, Pages 264-273

  Gimelli, G ^a   Giorda, R ^b   Beri, S ^b   Gimelli, S ^c   Zuffardi, O ^c  

^a G GASLINI INSTITUTE   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

Author keywords

Blaschko's lines; HPS3 expression; Marker chromosome; Neocentromere

Indexed keywords

ARTICLE; BLASCHKO LINE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME MARKER; CONGENITAL MALFORMATION; GENE; GENITAL MALFORMATION; HPS3 GENE; HUMAN; HYPERPIGMENTATION; INFANT; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 3; GENE DUPLICATION; GENETIC MARKERS; GENITALIA; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; MENTAL RETARDATION; MOSAICISM; SKIN DISEASES;

EID: 34447328988     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.04.003     Document Type: Article

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