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Trisomy 16 Down syndrome Trisomy 8 Triploid syndrome Edwards syndrome Digeorge syndrome Trisomy 9 Genetics of down syndrome Trisomy x 22q13 deletion syndrome Chromosomal deletion syndrome Genetic disorder Tetrasomy x Patau syndrome Klinefelter syndrome Proteus syndrome Achondroplasia Jacobsen syndrome Birth defect Noninvasive prenatal testing Fragile x syndrome Pentasomy x Crouzon syndrome 13q deletion syndrome Steatocystoma multiplex Diastrophic dysplasia Nephronophthisis Gonadal dysgenesis Neurofibromatosis Turner syndrome Fg syndrome Cleidocranial dysostosis Aneuploidy Tricuspid atresia Angelman syndrome Thalassemia Multicystic dysplastic kidney Congenital adrenal hyperplasia Adrenoleukodystrophy Mcleod syndrome Methylmalonic acidemia Charge syndrome Trinucleotide repeat expansion Marfan syndrome Philadelphia chromosome Sex chromosome anomalies Treacher collins syndrome Cri du chat syndrome Atrial septal defect Congenital myasthenic syndrome Focal cortical dysplasia Ectodermal dysplasia Schwannomatosis Acrania Polysplenia Agenesis of the corpus callosum Apert syndrome Incontinentia pigmenti Congenital heart defect Sanfilippo syndrome Cat eye syndrome Dentinogenesis imperfecta True hermaphroditism Copy number variation Brunner syndrome Sickle cell disease 46,xx/46,xy 1q21.1 deletion syndrome Alagille syndrome Symbrachydactyly Megalencephaly Ectopic pregnancy Congenital rubella syndrome Brca mutation 45,x/46,xy mosaicism Adermatoglyphia Mitochondrial disease Beta thalassemia Omenn syndrome Diffuse infantile fibromatosis Dyskeratosis congenita Carpenter syndrome Gestational trophoblastic disease Lig4 syndrome Fanconi anemia Sotos syndrome Phocomelia Congenital syphilis Alpha-thalassemia Pfeiffer syndrome Neurofibromatosis type i Holoprosencephaly Schizencephaly Cornelia de lange syndrome Paramyotonia congenita Kallmann syndrome Gata2 deficiency Polyhydramnios Emanuel syndrome Chromosome abnormality

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