Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
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Cited by (211)
22q11.2 deletion syndrome: Setting the stage
2022, The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and TreatmentPrenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother
2021, Taiwanese Journal of Obstetrics and GynecologyCitation Excerpt :In that case, prenatal ultrasound showed tetralogy of Fallot (TOF) and thymic hypoplasia in the fetus. Fluorescence in situ hybridization (FISH) analysis on metaphase amniocytes showed the result of mos 46,XY.ish del(22)(q11.2q11.2)(D22S553-) [5]/46,XY.ish 22q11.2 (D22S553 × 2) [1] and a ratio of 61 (del.22q11.2)/39 (normal) in 100 interphase amniocytes. After birth, the neonate postnatally manifested hypocalcemia, hypoplasia of the thymus, overriding of the aorta, a large VSD, a small ASD, PDA and hypoplastic pulmonary arteries.
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