Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

American Journal of Medical Genetics, Part A

Volumn 146, Issue 22, 2008, Pages 2937-2943

  Descartes, Maria ^a   Hain, Julie Zenger ^b   Conklin, Michael ^c   Franklin, Judy ^a   Mikhail, Fady M ^a   Lachman, Ralph S ^d   Nolet, Serge ^e   Messiaen, Ludwine M ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b Oakwood Healthcare Inc   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e Departement de Pathologie   (France)

Author keywords

Critical region; Interstitial 1q deletion; Multiple congenital anomalies; Skeletal findings

Indexed keywords

ADOLESCENT; ARTICLE; BONE MALFORMATION; BONE RADIOGRAPHY; BRACHYDACTYLY; CASE REPORT; CHROMOSOME 1Q; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT RADIOGRAPHY; GROWTH HORMONE DEFICIENCY; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MULTIPLE MALFORMATION SYNDROME; PRIORITY JOURNAL; SELLA TURCICA; SKULL RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; BONE AND BONES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; MENTAL RETARDATION; PHENOTYPE; SYNDROME; YOUNG ADULT;

EID: 56049104702     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32550     Document Type: Article

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