Ring chromosome 10: Report on two patients and review of the literature

Journal of Applied Genetics

Volumn 54, Issue 1, 2013, Pages 35-41

  Guilherme, Roberta Santos ^a   Kim, Chong Ae ^b   Alonso, Luis Garcia ^a   Honjo, Rachel S ^b   Meloni, Vera Ayres ^a   Christofolini, Denise Maria ^c   Kulikowski, Leslie Domenici ^b   Melaragno, Maria Isabel ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c FACULDADE DE MEDICINA DO ABC   (Brazil)

Author keywords

FISH; Ring chromosome; Ring instability; SNP array

Indexed keywords

CAPTOPRIL; DIGOXIN; FUROSEMIDE; SULFAMETHOXAZOLE; TRIMETHOPRIM;

ADOLESCENT; ADULT; ANTEVERTED NOSTRIL; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 10; CHROMOSOME ANALYSIS; CLINODACTYLY; COMPUTER ASSISTED TOMOGRAPHY; CONGESTIVE CARDIOMYOPATHY; CONVERGENT STRABISMUS; CRYPTORCHISM; DYSPLASIA; EPICANTHUS; FLUORESCENCE IN SITU HYBRIDIZATION; FOREHEAD; GENE DELETION; HIGH ARCHED PALATE; HUMAN; HYPERTELORISM; HYPOKINESIA; HYPOPIGMENTATION; INGUINAL HERNIA; KYPHOSIS; MALE; MICROCEPHALY; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYOPIA; OSTEOPENIA; PALPEBRAL FISSURE ANOMALY; PTOSIS; RETROGNATHIA; RING CHROMOSOME; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTOLIC DYSFUNCTION; SYSTOLIC HEART MURMUR; TERATOLOGY; VESICOURETERAL REFLUX;

EID: 84872660865     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-012-0128-7     Document Type: Article

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