Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 3, 2011, Pages 548-554

  Alkalay, Avishai A ^a   Guo, Tingwei ^a   Montagna, Cristina ^a   Digilio, M Cristina ^b   Dallapiccola, Bruno ^b   Marino, Bruno ^c   Morrow, Bernice ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Cytogenetic analysis; DiGeorge syndrome; Dosage compensation; Fluorescence; Genetic; In situ hybridization; Oligonucleotide array; Recurrence risks; Sequence analysis

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q11; CHROMOSOME DUPLICATION; CHRONIC OTITIS MEDIA; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONDUCTION DEAFNESS; CRYPTORCHISM; CYTOGENETICS; DIGEORGE SYNDROME; DOLICOCEPHALY; ECHOCARDIOGRAPHY; EPICANTHUS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENE EXPRESSION REGULATION; GENE REARRANGEMENT; GESTATIONAL AGE; HEART DISEASE; HEART VENTRICLE SEPTUM DEFECT; HOMOLOGOUS RECOMBINATION; HUMAN; HYDRAMNIOS; INGUINAL HERNIA; KYPHOSIS; LEARNING DISORDER; LIP DISEASE; LYMPHOCYTE COUNT; MALE; MENTAL DEFICIENCY; MOLECULAR DIAGNOSIS; PALPEBRAL FISSURE ANOMALY; PERIORBITAL FULLNESS; PRENATAL CARE; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STRABISMUS; THROMBOCYTOPENIA; VELOCARDIOFACIAL SYNDROME;

ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; DNA COPY NUMBER VARIATIONS; DOSAGE COMPENSATION, GENETIC; FAMILY; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY;

EID: 79951963982     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33861     Document Type: Article

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