Fibroelastic papilloma arising in a Chiari network.

The occurrence of fibroelastic papilloma arising in a Chiari network in an 85-year-old man is described. Occurrence of this tumor in this location has not been previously reported, and should be added to the differential diagnosis of intracardiac masses arising in the right atrium.

Chromosome abnormality in Kallmann syndrome.

We report on an individual with Kallman syndrome (KS) and a balanced de novo translocation (7;12)(q22,q24). None of 6 full sibs, 3 half-sibs, or parents have KS or this chromosome translocation. This is the only known report of KS with a chromosome abnormality.

Complete trisomy 17p a relatively new syndrome.

A patient with a de novo duplication of 17p is described. A comparison with five other published cases indicates several features in common that seem characteristic of the syndrome. Primary features include, low birth weight, small size, severe mental and motor retardation, heart defect, failure to thrive and peculiar facial traits.

Familial transmission of Wolf syndrome resulting from specific deletion 4p16 from t(4;8)(p16;p21) mat.

Wolf syndrome has been recognized since the mid-sixties. It has also been postulated that the loss of 4p16 is the primary reason for the syndrome. However, in a handful of cases the breakpoints have been identified, only a very few of which are exclusively 4p16.

Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation.

Duplication of 6q24 leads to 6qter was identified by GTG banding in an infant girl whose father was a balanced translocation carrier 46,XY,t(3;6)(p26 leads to q2402). At birth and at 4 mo she had proportionate short stature, microcephaly, asymmetric micrognathia, bow-shaped upper vermilion, long upper lip, submucous cleft palate, antimongoloid slant of palpebral fissures, telecanthus, prominent eyes, short neck with anterior and lateral webbing, short sternum, overlapping toes, wrist contractures, and hypertonicity. Later she was noted to have psychomotor retardation.