Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities

Cytogenetic and Genome Research

Volumn 125, Issue 4, 2009, Pages 334-340

  Morales, C ^a,b   Mademont Soler, I ^a   Armengol, L ^c   Mila M ^a,b,d   Badenas, C ^a,b,d   Andres S ^e   Soler, A ^a,b,d   Sanchez A ^a,b,d  

^a Servei de Reumatologia Hospital   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c CENTRE FOR GENOMIC REGULATION CRG   (Spain)

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

^e HOSPITAL CLÍNIC   (Spain)

Author keywords

Array CGH; Chromosome 3; Growth retardation; Inversion; Microdeletion; Neurodevelopmental delay

Indexed keywords

MEMBRANE PROTEIN; PROTEIN CNTN3; PROTEIN PDZRN3; ROUNDABOUT RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 3P; CHROMOSOME 7; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINICAL EXAMINATION; CLINICAL FEATURE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; ECHOCARDIOGRAPHY; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GASTROESOPHAGEAL REFLUX; GROWTH RETARDATION; HUMAN; HYPOPLASIA; KARYOTYPE; MYOPIA; NERVE CELL DIFFERENTIATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; CHROMOSOME 3; CHROMOSOME BANDING PATTERN; CHROMOSOME INVERSION; CONGENITAL DISORDER; GENE DELETION; GENETICS; KARYOTYPING;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 3; CONGENITAL ABNORMALITIES; FEMALE; HUMANS; INVERSION, CHROMOSOME; KARYOTYPING; SEQUENCE DELETION;

EID: 70350746224     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000235940     Document Type: Article

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