نتایج جستجو برای: partial trisomy 22

تعداد نتایج: 439803  

Journal: :Molecular syndromology 2013
T Heinrich I Nanda M Rehn U Zollner E Frieauff J Wirbelauer T Grimm M Schmid

Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,...

Journal: :Journal of medical genetics 1981
A M Migliorini R Coco T C De Negrotti J M Sanchez G Castineyra

Prenatal diagnosis was performed in a woman whose previous pregnancy resulted in a girl with probable Down syndrome who died soon after delivery. The mother was found to be a carrier of a reciprocal balanced translocation between chromosomes 21 and 22, and the fetus was found to have an unbalanced translocation involving chromosomes 21 and 22: 46,XX, -22, +t(21;22)(q22;q11)(21 pter leads to 21q...

Journal: :Pediatric Research 1981

Journal: :Journal of Medical Genetics 1977

Journal: :Journal of Medical Genetics 1986

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