Inherited tandem duplication of the X chromosome: Dup(X)(q13.2-q21.2) in a family

Chang Gung Medical Journal

Volumn 27, Issue 9, 2004, Pages 685-690

  Hou, Jia Woei ^a  

^a CHANG GUNG CHILDREN S HOSPITAL   (Taiwan)

Author keywords

Failure to thrive; Immunodeficiency; Nephrolithiasis; X chromosome; Xq duplication

Indexed keywords

IMMUNOGLOBULIN G4;

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME PAINTING; CHROMOSOME TANDEM DUPLICATION; CHROMOSOME XQ; CORPUS CALLOSUM; CORPUS CALLOSUM DYSGENESIS; FAILURE TO THRIVE; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; GENE DOSAGE; GENE LOCUS; GENE REARRANGEMENT; HUMAN; IMMUNE DEFICIENCY; KARYOTYPING; KIDNEY TUBULE ACIDOSIS; LARYNGOMALACIA; MALE; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; NEPHROLITHIASIS; RECURRENT INFECTION; X CHROMOSOME ABERRATION; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, X; CORPUS CALLOSUM; FAMILY HEALTH; GASTROESOPHAGEAL REFLUX; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, LOW BIRTH WEIGHT; INFANT, NEWBORN; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE HYPOTONIA; TANDEM REPEAT SEQUENCES;

EID: 9244233894     PISSN: 02558270     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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