JohnM. Opitz

A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t (6;19)

A mentally retarded woman with multiple congenital anomalies is described.

Hereditary splenomegaly with hypersplenism

We report seven children with a clinically benign form of primary splenomegaly associated with hematologic evidence of hypersplenism. Five belong to one sibship, the other two are second cousins of each other and of the group of siblings. Splenectomy was performed in five subjects, but pedigree evidence of this autosomal dominant trait tends to indicate that complete clinical resolution occurs normally so that transmitting adults show no splenomegaly or hypersplenism. This appears to be a newly recognized Mende‐lian mutation which is evident (“penetrant”) only in childhood, and which may possibly have pleiotropic effects on eye and CNS development.

Considerations of Sex Chromosome Abnormalities in Man

Most of the developmental aspects and the genetic control mechanisms of normal human gonadal and genital differentiation are not well understood. Advances in cytogenetic technique led to the discovery of many different sex chromosome abnormalities in man. These stimulated, anew, attempts to relate gonosomal function to processes of normal sex differentiation. We should like to present personally-studied patients and review previously published cases pertaining to a discussion of the role of the sex chromosomes in sex determination, gonadal and genital development.

THE KQ SYNDROME

A “new” syndrome of primary skeletal abnormalities is described in 6 members of the KQ family. Genetic transmission is likely X-linked recessive but compatible with autosomal dominant inheritance with complete penetrance but less marked expressivity in females. The major clinical and roentgenographic manifestations include shortness of stature, microbrachycephaly, hypertelorism, shortness of maxilla and mandible, marked cubitus valgus, short ulnae, metacarpals and metatarsals, short AP diameter of vertebral bodies and a peculiarly straight cervical, thoracic and lumbar spine with increased lumbo-sacral angle. All the affected males are mildly mentally retarded; none have reproduced. The KQ syndrome appears to be similar to but different from the Aarskog Syndrome.