24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.
24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.
Chen
C-P
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan. cpc_mmh@yahoo.com
Wang
T-H
TH
Lin
S-P
SP
Chern
S-R
SR
Chen
M-R
MR
Lee
C-C
CC
Chen
Y-J
YJ
Wang
W
W
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D003582:Cytogenetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D007223:Infant; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D018633:Pulmonary Atresia / Q000235:genetics; D014178:Translocation, Genetic