CLINICAL-FEATURES OF 9 MALES WITH MOLECULARLY DEFINED DELETIONS OF THE Y-CHROMOSOME LONG ARM

Deletions of the long arm of the Y chromosome have previously been ass ociated with azoospermia and short stature. We report the results of a detailed clinical and molecular study of nine males with partial dele tions of Yq. Special emphasis was laid on congenital anomalies and dys morphic features. Some of the patients have developmental problems or distinct facial features, namely a small chin and mouth, a high arched or cleft palate, downward slanting palpebral fissures, high nasal bri dge, and dysmorphic ears. As far as we know, similar facial dysmorphis m has not been previously described in association with del(Yq). These features are not, however, simply correlated to the size of the delet ion. In none of these patients could evidence of aberrant Xq-Yq interc hange be found.