Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale.

A two-year-old child who had had palliative surgery as a neonate for an absent right atrioventricular connection and double-inlet ventricle was shown to be developmentally retarded. Trisomy for the short arm of chromosome 8 was demonstrated, resulting from a familial 8:13 translocation, with a high risk of recurrence. Although the specific features of this case are unique, it illustrates the importance of chromosome analysis in any dysmorphic infant whose heart defect places prolonged survival in doubt.

Pitfalls of genetic counselling in Pfeiffer's syndrome.

A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.

Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia.

A child with brachymesophalangy and postaxial postminimal polydactyly was found also to have dermal ridge dissociation and ridge hypoplasia. She was the second child of unaffected, unrelated parents and was born after a normal pregnancy and delivery. No previous report of a similar combination has been traced.

Deletion 14q and pericentric inversion 14.

A woman with deletion 14q as well as inversion 14 is presented, and physical signs are compared with those of patients with deletion long arm 13. No previous case of deletion long arm 14 has been published.

Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).

A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,XY,-21,+der (21),t(18;21) ((18pter leads to 18q21::21q22 leads to 2 lqter)mat.

A family with syndactyly type II (synpolydactyly).

Syndactyly Type II is reported in eight members of a family in four generations. Affected individuals show two distinctive patterns of variation in the expression of the gene. Distortion of dermatoglyphic patterns is associated with the severe but not the mild manifestation of the malformation. The diagnostic significance of minimal features of the condition is discussed. Linkage data suggest that loci for Syndactyly II and for blood-group antigens ABO, MNSs, P, Rh and Kell are not closely linked.

Isochromosome Yq in a woman with atypical Turner's syndrome.

A female with 46,X,i(Yq) in all cells and a survey of previous cases of isochromosome Yq is presented. She was first admitted to hospital 15 years old due to nanismus and retarded sexual development. Gonadal dysgenesia was observed, and the diagnosis 'atypical Turner's syndrome' was applied. The patient, who presents only a few Turner stigmata, has been given cyclic estrogen treatment since the age of 16. She has developed normal secondary sex characteristics, cyclic bleedings and has attained normal height (161 cm). Since the age of 18 the patient has suffered various periods of anemia caused by gastrointestinal hemorrhage. This hemorrhage is probably due to intestinal teleangiectasiae which are found with increased frequency in patients with Turner's syndrome.

A profoundly mentally handicapped woman with a ring chromosome 22.

A small thirty-eight-year-old profoundly retarded woman is decribed who has a ring chromosome identified by banding techniques. Details are given of her behaviour, anthropometry, dermatoglyphics, karyotype and biochemistry with extensive investigations of her blood proteins and enzymes. Other described cases of ring 21 and 22 are reviewed. There is so much variability among the ring 22 chromosomes that it is not considered justifiable to speak of a ring 22 syndrome.

Dermatoglyphic findings in 54 triple-X females and a review of some general principles applying to the soles in sex chromosome aneuploidy.

The dermatoglyphic findings from 54 females with XXX sex chromosomes are reported. Sole prints were available for study in 33 cases. Compared with female controls, an excess of radial loops and arches and a reduced mean for total finger ridge-count were the main peculiarities on the fingers. On the palms, the absence of pattern in areas I and II, and wider ridges in the a-b interval were characteristics observed. Prevous findings by other authors with respect to: (1) zygodactylous tendency in the palms, (2) tendency for the ridge width to increase with the number of sex chromosomes, and (3) greater effect of an extra X chromosome in pattern size reduction but lesser influence on ridge width than an additional Y chromosome, were confirmed. On the soles, pattern intensity was above the control average. There was a significant deficit of proximal loops in area III but excess of proximal V together with triradius H. Triradius p" and zygodactylous z' were also significantly reduced in frequency. General findings with respect to the soles of patients with X,XXX,XXY, and XYY sex chromosomal abnormalities are also reviewed. Discrepancies are apparent and further studies are needed. Finally, a dictionary (Appendices 1 and 2) is provided which gives the frequencies of the complete pattern configurations on the palms and soles of XXX females.