Familial cryptic translocation between chromosomes 2qter and 8qter: Further delineation of the Albright hereditary osteodystrophy-like phenotype

Journal of Medical Genetics

Volumn 36, Issue 8, 1999, Pages 604-609

  Bijlsma, E K ^a   Aalfs, C M ^a   Sluijter, S ^a   Oude Luttikhuis, M E M ^b   Trembath, R C ^b   Hoovers, J M N ^a   Hennekam, R C M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

2q deletion; AHO like phenotype; Cryptic translocation; t(2; 8)

Indexed keywords

ADOLESCENT; ADULT; AGGRESSION; ALBRIGHT SYNDROME; ARTICLE; CAUSE OF DEATH; CHILD; CHROMOSOME 2; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION 2; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HYPERKINESIA; INFANT; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; NOSE MALFORMATION; PEDIGREE ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCANTY HAIR; SCHOOL CHILD; SEIZURE; SHORT STATURE; TELOMERE;

ADOLESCENT; ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PEDIGREE; PHENOTYPE; TRANSLOCATION, GENETIC;

EID: 0032794675     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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