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Titolo:
MOLECULAR DEFINITION OF DELETIONS OF DIFFERENT SEGMENTS OF DISTAL 5P THAT RESULT IN DISTINCT PHENOTYPIC FEATURES
Autore:
CHURCH DM; BENGTSSON U; NIELSEN KV; WASMUTH JJ; NIEBUHR E;
Indirizzi:
UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,PLUMWOOD ROOM H131 IRVINE CA 92717 UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM IRVINE CA 92717 UNIV CALIF IRVINE,DEPT PEDIAT IRVINE CA 92717 UNIV CALIF IRVINE,CTR HUMAN GENOME IRVINE CA 92717 UNIV COPENHAGEN,DEPT MED GENET,HUMAN GENOME GRP COPENHAGEN DENMARK
Titolo Testata:
American journal of human genetics
fascicolo: 5, volume: 56, anno: 1995,
pagine: 1162 - 1172
SICI:
0002-9297(1995)56:5<1162:MDODOD>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN DOPAMINE TRANSPORTER; CHAT SYNDROME; SHORT ARM; CHROMOSOME-5; CRI; EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
25
Recensione:
Indirizzi per estratti:
Citazione:
D.M. Church et al., "MOLECULAR DEFINITION OF DELETIONS OF DIFFERENT SEGMENTS OF DISTAL 5P THAT RESULT IN DISTINCT PHENOTYPIC FEATURES", American journal of human genetics, 56(5), 1995, pp. 1162-1172

Abstract

Cri du chat syndrome (CDC) is a segmental aneusomy associated with deletions of chromosome 5p15. In an effort to define regions that produce the phenotypes associated with CDC, we have analyzed deletions from 17 patients. The majority of these patients had atypical CDC features or were asymptomatic. Using these patients, we have mapped several phenotypes associated with deletions of 5p, including speech delay, catlike cry, newborn facial dysmorphism, and adult facial dysmorphism. Thisphenotypic map should provide a framework with which to begin identification of genes associated with various phenotypic features associated with deletions of distal 5p. We have also analyzed the parental origin of the de novo deletions, to determine if genomic imprinting could be occurring in this region. In addition, we have isolated cosmids that could be useful for both prenatal and postnatal assessments of del5(p) individuals.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 05:35:04