Report of a mother and daughter with the 12q14 microdeletion syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 2, 2012, Pages 417-422

  Bibb, Audrey L ^a   Rosenfeld, Jill A ^b   Weaver, David D ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Signature Genomics   (United States)

Author keywords

12q14 microdeletion; Birth defects; Chromosomal abnormalities; Comparative genomic hybridization; Microarray; Microcephaly; Short stature

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 12Q14; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DIFFERENTIAL DIAGNOSIS; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; LEARNING DISORDER; MICROARRAY ANALYSIS; MICROCEPHALY; OSTEOSCLEROSIS; PHENYLKETONURIA; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SILVER RUSSELL SYNDROME;

BODY DYSMORPHIC DISORDERS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; FEMALE; HUMANS; LEARNING DISORDERS; MICROCEPHALY; MIDDLE AGED; MOTHERS; NUCLEAR FAMILY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

EID: 84856219655     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34397     Document Type: Article

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