Article
Recurrent enlarged nuchal translucency: first trimester presentation of a familial 15q26→qter deletion.
American journal of medical genetics. Part A - 1 Mar 2015
Reiss Rosemary, Ahern Diane, Sandstrom Mary, Wilkins-Haug Louise
Abstract excerpt
A 15q26 terminal chromosomal microdeletion was associated with markedly enlarged 1st trimester nuchal translucency in three of four pregnancies of a couple seen in our prenatal diagnosis unit. Nuchal translucency was normal in the couple's fourth pregnancy, which did not carry the microdeletion. The diagnosis of a 15q26.2→qter microdeletion was first made when the couple's affected daughter displayed significant...
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