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First-trimester Application of Expanded Non-Invasive Prenatal Testing in the Genetic Investigation of Fetal 1p36 Deletion Syndrome Associated with a Familial Unbalanced Reciprocal Translocation of 46,xx,der(1)t(1;2) (P36.2;q37.3)dmat

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY(2024)

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Key words
1p36 deletion,Expanded NIPT,Partial monosomy 1p (1p36.2→pter),Partial trisomy 2q (2q37.3→qter),Translocation
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