Ring chromosome 12 with variable phenotypic features: Clinical report and review of the literature

American Journal of Medical Genetics

Volumn 117 A, Issue 3, 2003, Pages 275-277

  Parmar, Ramesh C ^a,c   Muranjan, Mamta N ^a   Kotvaliwale, S ^b   Sharma, Seema ^a   Bharucha, B A ^a  

^a KEM HOSPITAL   (India)

^b Genetic Diagnostic Center   (India)

^c NONE   (India)

Author keywords

Atrial septal defect; Chromosomal anomaly; Chromosome 12; Developmental delay; Failure to thrive; Hirsutism; Lordosis; Mental retardation; Pseudocamptodactyly; Ring chromosome

Indexed keywords

LACTATE DEHYDROGENASE;

ADOLESCENT; ARTICLE; CAMPTODACTYLY; CASE REPORT; CHROMOSOME 12; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FEMALE; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HIRSUTISM; HUMAN; HUMAN CELL; KARYOTYPE; KARYOTYPE 45,XX; LACTATE DEHYDROGENASE BLOOD LEVEL; LEARNING DISORDER; LORDOSIS; LUMBAR SPINE; MEIOSIS; MENTAL DEFICIENCY; METAPHASE; MICROCEPHALY; MITOSIS; MONOSOMY; MONOSOMY 12; MORPHOLOGICAL TRAIT; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; RING CHROMOSOME; TELOMERE; BONE; CHROMOSOME BANDING PATTERN; CHROMOSOME DISORDER; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; FINGER; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; GROWTH DISORDER; HEART SEPTUM DEFECT; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PHENOTYPE; REVIEW;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BONE AND BONES; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 12; DEVELOPMENTAL DISABILITIES; FEMALE; FINGERS; GROWTH DISORDERS; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; RING CHROMOSOMES;

EID: 0042320687     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10044     Document Type: Article

References (13)

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