Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 372-379

  Wang, Jia Chi ^a,b,h   Dang, Linda ^a,b   Lomax, Brenda ^c   Turner, Lesley ^d   Shago, Mary ^e   Teebi, Ahmad S ^f   Klatt, Regan ^e   MacLeod, Patrick M ^g   Yong, Siu Li ^c   Nowaczyk, Malgorzata J M ^h   Eydoux, Patrice ^c  

^a HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^d MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f WEILL CORNELL MEDICAL COLLEGE   (Qatar)

^g VICTORIA GENERAL HOSPITAL   (Canada)

^h MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

6q11 q14; BAC FISH; COL12A1; Interstitial deletions; SNP array

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHILD; CHROMOSOME 6Q; CHROMOSOME DELETION; CLINICAL ARTICLE; COL12A1 GENE; EAR DYSPLASIA; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE LOCATION; GENE MAPPING; HUMAN; INFANT; KARYOTYPE; LOW SET EAR; MALE; MOLECULAR GENETICS; MUSCLE HYPOTONIA; PALPEBRAL FISSURE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION; UMBILICAL HERNIA; URINARY TRACT MALFORMATION;

ADULT; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 6; COHORT STUDIES; FACE; FEMALE; HERNIA, UMBILICAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MUSCLE HYPOTONIA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PREMATURE BIRTH; SEQUENCE DELETION; YOUNG ADULT;

EID: 61749086642     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32675     Document Type: Article

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