De novo deletion 7q36 resulting from a distal 7q/8q translocation: Phenotypic expression and comparison to the literature

Genetic Counseling

Volumn 16, Issue 1, 2005, Pages 1-15

  Lukusa, T ^a,b   Vermeesch, J R ^a   Fryns, J P ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b Center for Human Genetics   (Belgium)

Author keywords

De novo deletion 7q36; Holoprosencephaly; Mental retardation; Pre and postnatal growth retardation; Subtelomeric 8q duplication

Indexed keywords

ARTICLE; BONE AGE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CHROMOSOME G BAND; CHROMOSOME TRANSLOCATION 7; CHROMOSOME TRANSLOCATION 8; CLINICAL FEATURE; CRYPTORCHISM; DEVELOPMENTAL DISORDER; EAR MALFORMATION; EPICANTHUS; FEEDING DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GROWTH RETARDATION; HUMAN; MALE; MENTAL DEVELOPMENT; MICROCEPHALY; NONVERBAL COMMUNICATION; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRENATAL GROWTH; PRESCHOOL CHILD; PTOSIS;

CARRIER PROTEINS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; DEGLUTITION DISORDERS; FEEDING BEHAVIOR; HOLOPROSENCEPHALY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MEMBRANE GLYCOPROTEINS; MENTAL RETARDATION; PHENOTYPE; SYNDROME; TRANS-ACTIVATORS; TRANSLOCATION, GENETIC;

EID: 16444366378     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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