Charles E. Parker

The 48, XXYY syndrome

A nineteen year old Caucasian man with the 48, XXYY syndrome is described. The syndrome is discussed, and it is pointed out that this chromosome constitution should be classed as a separate entity since there are physical, dermatoglyphic and mental differences from Klinefelters 47, XXY syndrome.

The XYY syndrome

Abstract The XYY syndrome is of particular interest since the extra Y chromosome seems to be related to personality traits and criminal behavior. A new case of XYY syndrome is presented and discussed with relation to the present knowledge of the syndrome. Extensive laboratory data are presented, but no diagnostic abnormalities were found. Typical karyotypes, both meiotic and mitotic, are shown. Meiotic studies indicate that the extra Y chromosome is not transmitted to the progeny. Personality type and height remain the most outstanding features of the syndrome. There appear to be no diagnostic dermatoglyphic or histologic patterns. Although one can suspect the syndrome clinically, a karyotype is necessary to prove the diagnosis.

Familial Deletion of the Short Arm of the D1-Chromosome (46, XX, 13 p-) Not Associated with Loss of Haptoglobin or Catalase Activity

This is an instructive description of a child who has a deletion of the short arm of the D 1 (number 13) chromosome. She is mentally retarded and has multiple congenital malformations, catalase and haptoglobin activity, ruling out the possibility that the loci for these systems are present on the deleted segment. The use of autoradiography is discussed. It is stressed that examination of the palmar and plantar dermatoglyphics should be part of the diagnostic work-up for retardation.

The isoenzymes of phenylalanine hydroxylase in humans.

We have demonstrated three isoenzymes of phenylalanine hydroxylase in our laboratory (Parker et al., 1977). The isoenzymes were originally reported by Barranger et al. (1972) in rat liver. The three isoenzymes have been characterised by rechromatography and duplicate elution patterns from separate columns and have been shown to be identical with the relative peak position and magnitudes for the isoenzymes. The Michaelis constants (Kms) and pH optima for the three isoenzymes which we have chosen to call pi, kappa, and epsilon are consistent with the reported values for phenylalanine hydroxylase (Bu bliz, 1969; Udenfriend, 1969). There are small differences in temperature, inactivation, and inhibition by p-chlorophenylalanine suggesting that the isoenzymes have slightly different chemical properties. It has been recognised since Jerviss first experiments that the disease phenylketonuria represented an inability of the phenylalanine hydroxylating system to convert phenylalanine to tyrosine. The hydroxylating system consists of several protein components and requires nicotinamide adenine dinucleotide phosphate and biopterin cofactors. The principal protein in this system is phenylalanine hydroxylase, and the lack of functioning phenylalanine hydroxylase is the principal cause of the various states of hyperphenylalaninaemia, including phenylketonuria (Shaw and Gortatowski, 1971). The purpose of this paper is to present the results of the analysis of the isoenzymes of phenylalanine hydroxylase in the liver specimens of 12 normal human subjects and 10 children with classical phenylketonuria. DISCUSSION

Two Children with a Partial Trisomy of Chromosome 15 (47,XX,+15): There Appears to Be No Constellation of Physical Findings That Are Characteristic of This Abnormality

From the Divisions of Child Development and Medical Genetics of the Childrens Hospital of Los Angeles, 4650 Sunset Boulevard, Los Angeles, California 90027: and the Department of Pediatrics of the University of Southern California School of Medicine and the Department of Anthropology, University of Toronto. Supported by grants from the Children’s Bureau of the Department of Health, Education and Welfare, Washington, D.C. Project #422, Mental Retardation Division (NR 93989-05-69), Social Rehabilitation Services, Department of Health, Education and Welfare and the Department of Public Health, State of California. ! OR ell NIC I ANS who serve the population of children with developmental anomalies, asking for a chromosome analysis has now become a routine procedure in practice. Recent advances in staining techniques have vastly increased the information that may be gained from SLICII StLI(lieS.’-5 This report con-