A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males

American Journal of Medical Genetics, Part A

Volumn 143, Issue 2, 2007, Pages 135-141

  Melichar, Volker O ^a   Guth, Sabine ^a   Hellebrand, Heide ^b   Meindl, Alfons ^b   Von Der Hardt, Katharina ^a   Kraus, Cornelia ^a   Trautmann, Udo ^a   Rascher, Wolfgang ^a   Rauch, Anita ^a   Zenker, Martin ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

Deletion; Ichthyosis; Mental retardation; Ocular albinism; Skeletal Dysplasia; X chromosome

Indexed keywords

ARTICLE; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME ANALYSIS; CHROMOSOME DELETION X; CHROMOSOME XP; CONTROLLED STUDY; DYSCHONDROSTEOSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC MARKER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ICHTHYOSIS; INFANT; KALLMANN SYNDROME; LETHAL GENE; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; OA1 GENE; OCULAR ALBINISM; PRIORITY JOURNAL; SEQUENCE TAGGED SITE; TELOMERE; X CHROMOSOME LINKAGE;

ABNORMALITIES, MULTIPLE; ALBINISM, OCULAR; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME DELETION; HUMANS; ICHTHYOSIS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KALLMANN SYNDROME; MALE; MENTAL RETARDATION; X CHROMOSOME;

EID: 33846009500     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31451     Document Type: Article

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