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Genetic Counseling (Geneva, Switzerland)|October 28, 2011
A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed pubertyC P Chen, S P Lin, Y N Su, et al.
Genetic Counseling (Geneva, Switzerland)|August 11, 2012
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocationC-P Chen, S-P Lin, C-H Hsu, et al.
European Journal of Medical Genetics|June 14, 2006
24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphismC-P Chen, T-H Wang, S-P Lin, et al.
Genetic Counseling (Geneva, Switzerland)|May 23, 2007
Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)C P Chen, S P Lin, C Y Tzen, et al.
Genetic Counseling (Geneva, Switzerland)|August 11, 2012
Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactylyC-P Chen, S-P Lin, M-R Chen, et al.
Prenatal Diagnosis|May 22, 2001
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesisC P Chen, S R Chern, W Wang, et al.
Genetic Counseling (Geneva, Switzerland)|February 26, 2013
De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delayC-P Chen, S-P Lin, Y-L Huang, et al.
Prenatal Diagnosis|June 11, 1998
Prenatal diagnosis of de novo interstitial 16q deletion in a fetus associated with sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bonesC P Chen, S R Chern, C C Lee, et al.
Journal of Medical Genetics|February 25, 1998
Kyphomelic dysplasia in two sib fetusesC P Chen, S R Chern, S L Shih, et al.
Genetic Counseling (Geneva, Switzerland)|October 18, 2012
Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delayC P Chen, S P Lin, M R Chen, et al.
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