MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation

European Journal of Medical Genetics

Volumn 56, Issue 11, 2013, Pages 609-613

  Pfau, Ruthann B ^a   Thrush, Devon Lamb ^a,b   Hamelberg, Elizabeth ^a   Bartholomew, Dennis ^a,b   Botes, Shaun ^c   Pastore, Matthew ^a,b   Tan, Christopher ^c   del Gaudio, Daniela ^c   Gastier Foster, Julie M ^a,b   Astbury, Caroline ^a,b  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

Array based comparative genomic hybridization; Cell cycle proteins; Consanguinity; Cytogenetic analysis; Genes; Human; MCPH1 protein; Microcephaly; Premature chromosome condensation syndrome; Primary autosomal recessive 1; Recessive

Indexed keywords

ANTERIOR FONTANEL; ANTIBIOTIC THERAPY; APGAR SCORE; ARTICLE; BIRTH WEIGHT; CASE REPORT; CESAREAN SECTION; CHROMOSOME ANALYSIS; CHROMOSOME PREPARATION; CONSANGUINITY; COST CONTROL; EXON; FAILURE TO THRIVE; GENE; GENE DELETION; GENE DUPLICATION; GENETIC SCREENING; GROWTH RATE; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HOSPITALIZATION; HUMAN; KARYOTYPE 46,XY; MALE; MCPH1 GENE; MICROARRAY ANALYSIS; MICROCEPHALY; MITOSIS INDEX; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PREGNANCY COMPLICATION; PREMATURE CHROMOSOME CONDENSATION; PREMATURE LABOR; PROMOTER REGION; SEQUENCE ANALYSIS; URINARY TRACT INFECTION; VAGINA BLEEDING;

ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION; CELL CYCLE PROTEINS; CONSANGUINITY; CYTOGENETIC ANALYSIS; GENES; HUMAN; MCPH1 PROTEIN; MICROCEPHALY; PREMATURE CHROMOSOME CONDENSATION SYNDROME; PRIMARY AUTOSOMAL RECESSIVE 1; RECESSIVE;

CHROMOSOMES, HUMAN; CONSANGUINITY; EXONS; GENE DELETION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; KARYOTYPE; MALE; MAXILLOFACIAL ABNORMALITIES; MICROCEPHALY; NERVE TISSUE PROTEINS; SYNDROME;

EID: 84885951077     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.09.007     Document Type: Article

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