Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? - Report of two families

American Journal of Medical Genetics, Part A

Volumn 146, Issue 6, 2008, Pages 758-763

  Courtens, Winnie ^a   Schramme, Inge ^b   Laridon, Annick ^c  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Behavioral anomalies; Learning difficulties; Microduplication 22q11.2

Indexed keywords

METHYLPHENIDATE; RILATINE; UNCLASSIFIED DRUG;

ARTICLE; BEHAVIOR DISORDER; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC POLYMORPHISM; HUMAN; HYPERACTIVITY; LEARNING DISORDER; MALE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; FACIAL ASYMMETRY; FAMILY; FEMALE; GENE DUPLICATION; GENETIC HETEROGENEITY; HUMANS; MALE; MIDDLE AGED; PENETRANCE; PHENOTYPE; POLYMORPHISM, GENETIC; SYNDROME;

EID: 40449090405     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31910     Document Type: Article

References (9)