A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion

Genetic Counseling

Volumn 14, Issue 3, 2003, Pages 337-342

  Morava, E ^a,d   Bartsch, O ^b   Czako, M ^c   Frensel, A ^d   Karteszi J ^a   Kosztolanyt G Y ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c UNIVERSITY OF PÉCS   (Hungary)

^d Dept of Med Genet/Child Devmt ^*

Author keywords

Caf au lait spots; Normal development.; Ring chromosome 15

Indexed keywords

ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CHROMOSOME 15; CHROMOSOME 15Q; CHROMOSOME ARM; CHROMOSOME DELETION; CLINICAL FEATURE; FAILURE TO THRIVE; FEMALE; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HAIR COLOR; HUMAN; HYPERPIGMENTATION; MENTAL DEFICIENCY; MOSAICISM; PERIPHERAL LYMPHOCYTE; PRESCHOOL CHILD; RING CHROMOSOME; RING CHROMOSOME 15 SYNDROME; TELOMERE;

CAFE-AU-LAIT SPOTS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; CYTOGENETIC ANALYSIS; DNA PROBES; FEMALE; HUMANS; HYPERPIGMENTATION; IN SITU HYBRIDIZATION, FLUORESCENCE; RING CHROMOSOMES;

EID: 0141532992     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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