Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype-phenotype correlation

European Journal of Medical Genetics

Volumn 50, Issue 2, 2007, Pages 94-102

  Bernardini, Laura ^a   Capalbo, Anna ^a   D'Avanzo, Maria Gabriella ^b   Torrente, Isabella ^a   Grammatico, Paola ^c   Dell'Edera, Domenico ^d   Cavalcanti, Denise Pontes ^e   Novelli, Antonio ^a   Dallapiccola, Bruno ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b S G MOSCATI HOSPITAL   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UO Genetica Medica ASL 4   (Italy)

^e CAISM   (Brazil)

Author keywords

Chromosome 1; Genetic counselling; Mosaicism; Supernumerary ring chromosome (SRC)

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; EUCHROMATIN; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; GENE STRUCTURE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; KARYOTYPE; MALE; PHENOTYPE; RING CHROMOSOME; SCHOOL CHILD; SUPERNUMERARY CHROMOSOME;

CHROMOSOME BANDING; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC MARKERS; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MICROSATELLITE REPEATS; MOSAICISM; PHENOTYPE; PREGNANCY; RING CHROMOSOMES; UNIPARENTAL DISOMY;

EID: 33947181357     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.11.001     Document Type: Article

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