'Crommelin-type' symmetrical tetramelic reduction deformity: A new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)

Clinical Dysmorphology

Volumn 19, Issue 1, 2010, Pages 5-13

  Harewood, Louise ^a   Keeling, Jean W ^b   Fantes, Judith A ^a   Opitz, John M ^c   Fitzpatrick, David R ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b ROYAL INFIRMARY OF EDINBURGH   (United Kingdom)

^c UNIVERSITY OF UTAH   (United States)

Author keywords

Chromosomal breakpoints; CMKLR1; Peromelia; Phocomelia; Reciprocal translocation; Regulatory mutations; ROCK2

Indexed keywords

CHEMOKINE RECEPTOR; RHO KINASE;

ANIMAL TISSUE; ARTICLE; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME 2P; CHROMOSOME BREAKAGE; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CMKLR1 GENE; CROMMELIN TYPE SYMMETRICAL TETRAMELIC REDUCTION DEFORMITY; EMBRYO; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; HUMAN; HUMAN TISSUE; INTERPHASE; LIMB BUD; LIMB REDUCTION DEFECT; LOSS OF FUNCTION MUTATION; MALE; MOUSE; NONHUMAN; PHENOTYPE; PHOCOMELIA; PRIORITY JOURNAL;

ANIMALS; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 2; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICE; MUTATION; PHENOTYPE; RECEPTORS, G-PROTEIN-COUPLED; TRANSLOCATION, GENETIC;

EID: 74549129360     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328331ddbe     Document Type: Article

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