Partial monosomy of 22q, resulting from a de novo unbalanced translocation t(X;22)(q28;q11) was detected in a newborn female with manifestations of the DiGeorge anomaly including multiple anomalies, type I truncus arteriosus, T-cell abnormalities, thymic aplasia and parathyroid hypoplasia noted on postmortem examination. Although DiGeorge anomaly is causally heterogeneous, our patient, together with 18 previously known cases, confirms that partial monosomy of the proximal long arm of chromosome 22 is the single most common cause of this polytopic developmental field defect.
|Number of pages||5|
|Journal||Annales de Genetique|
|Publication status||Published - 1989|
ASJC Scopus subject areas