A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation.

A male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.

Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?

Hay and Wells in 1976 reported seven patients from four families who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects, and cleft lip and palate. The inheritance pattern was determined to be autosomal dominant. This condition is known as AEC syndrome or Hay-Wells syndrome.

A sibship with Roberts/SC phocomelia syndrome.

We report on a family in which 3 sibs have Roberts/SC phocomelia syndrome. One child has survived to age 9 years. The clinical manifestations and the natural history of this syndrome are reviewed.

[Dermatoglyphic patterns in cryptorchism].

Digital and palmar dermatoglyphic patterns of 155 children with cryptorchidy has been studied. Results were compared to two control groups of Spanish normal population. 50 and 300 males respectively, showing the following statistically significant differences: 1.