Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

American Journal of Medical Genetics

Volumn 94, Issue 3, 2000, Pages 254-261

  Zollino, Marcella ^a   Stefano, Cristina Di ^a,j   Zampino, Giuseppe ^a   Mastroiacovo, Pierpaolo ^a   Wright, Tracy J ^b   Sorge, Giovanni ^c   Selicorni, Angelo ^d,i   Tenconi, Romano ^e   Zappal, Alessandro ^a   Battaglia, Agatino ^f   Rocco, Maja Di ^g   Palka, Giandomenico ^h   Pallotta, Rosanna ^h   Altherr, Michael R ^b   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b LOS ALAMOS NATIONAL LABORATORY   (United States)

^c UNIVERSITY OF CATANIA   (Italy)

^d Clinica Pediatrica De Marchi   (Italy)

^e UNIVERSITY OF PADOVA   (Italy)

^f UNIVERSITY OF PISA   (Italy)

^g G GASLINI INSTITUTE   (Italy)

^h UNIVERSITY OF CHIETI   (Italy)

ⁱ SCIENTIFIC INSTITUTE   (Italy)

^j CATHOLIC UNIVERSITY   (Italy)

more..

Author keywords

Microdeletion; Nondeleted patient; Wolf Hirschhorn syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COSMID; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HEMIZYGOSITY; HUMAN; INFANT; MALE; PHENOTYPE; PRIORITY JOURNAL; WOLF HIRSCHHORN SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; COSMIDS; DEVELOPMENTAL DISABILITIES; DNA PROBES; FACIES; FEMALE; GENE DELETION; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; KIDNEY; MALE; MENTAL RETARDATION; MODELS, GENETIC; PHENOTYPE; SEIZURES; SYNDROME;

EID: 0034684044     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000918)94:3<254::AID-AJMG13>3.0.CO;2-7     Document Type: Article

References (19)

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2. A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disesae gene
3. A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8)(p16.3;q24.3)pat
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5. Preliminary phenotypic map of chromosome 4p16 based on 4p deletions
6. High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome
7. Structure and sequence of the human homeobox gene HOX7
8. FISH detection of Wolf-Hirschhorn syndrome: Exclusion of D4F26 as critical site
9. High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones
10. Confirmation of a suspected deletion of 4p16 by fluorescent in situ hybridization (FISH) with a cosmid probe
11. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma
12. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome (del (4p))
13. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
14. Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions
15. Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region
16. Classical Wolf-Hirschhorn syndrome confirmed molecularly despite normal results using commercially available probes: Redefinition of critical region
17. From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome: And back?
18. 'Tandem' duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype