The study of Italian Vital Statistics, from 1957 to 1966, reveals various classes of fertility (sterility, infertility, mean fertility, hyperfertility) and the curve of fertility in the woman's biological time. The study of lying-in women in Obstetrics Departments also yields data revealing an interaction between class and moment of fertility. The study of the Mendel Institute's twin file finally yields data stressing the existence of a relation between hyperfertility and multiple births. Endocrine fertility may thus be considered as genetically conditioned, and multiple births as an epiphenomenon of the hyperfertile class.

Shortened fifth middle phalanges, defined as being less than half the length of the fourth middle phalanx, were found in 12 of 96 Philadelphia Chinese and none of 200 Philadelphia Negro children. At least nine of these can be characterized as having stunted cratered diaphyses, with precocious cone epiphyses, which underwent very early epiphyseal union.

The possible extension of a current vascular hypothesis for cone epiphyses, to include inherited osseous variation in this region of the little finger, is discussed.

A classification of metacarpal brachydactyly is presented, with the intention of investigating the syndrome of pseudopseudohypoparathyroidism. Reports of cases which have been held to negate the theory that Albright's hereditary osteodystrophy is sex linked were found to have the pattern of phalangeal shortening exhibited by one of the forms of metacarpal brachydactyly. This finding lends support to the contention of others that these reported cases are not pseudo-pseudohypoparathyroidism.

A kindred is described with a probably new “cervico-dermo-reno-genital syndrome”, comprising a congenital muscular torticollis, multiple spontaneous keloids, cryptorchidism, pyelonephritis and other anomalies.

We believe that in this observation a single gene is responsible for the multiple mesodermal and ectodermal defects. Pleiotrophic effects of a single X-linked gene is the most likely possibility for this inborn error of connective tissue.

From an extensive review of the literature we may conclude that the nosological association of congenital muscular torticollis, multiple spontaneous keloids and cryptorchidism has thus far never been published.

Sex linked or sex limited inheritance for congenital muscular torticollis or multiple keloidosis has not yet been published with certainty.

Our observation and the frequent keloidosis in gonadal dysgenesis, may suggest the presence of gene material on the X-chromosome responsible for connective tissue hyperplasia.

The authors report three cases of enlargement in length of the short arm of a G chromosome: in a mother and her trisomy 21 son, and in a child with congenital glaucoma and systemic malformations. They discuss the nature of this odd chromosome. The latter can represent altered chromosomal behavior of anomalous coiling, but it is quite possible that it represents a translocation. The authors observed another case of congenital glaucoma with short arm enlargement in a G chromosome.

In peripheral blood cultures of a phenotypically abnormal Caucasian girl, a ring-shaped chromosome was observed in place of an E group member. The rest of the chromosomes of the complement did not show any obvious structural anomaly. The ring chromosome was noted in 100% of the recorded cells, and its size in individual metaphases remained fairly constant. It is suggested that this ring chromosome has become a permanent part of the complement of the patient.

The Morris syndrome of testicular feminization is described in two brothers. Cytogenetic findings show in both subjects a 46,XY karyotype in most examined metaphases and a 45,XY karyotype (due to a consistent loss of a small acrocentric) in a smaller percentage (respectively 18.7% and 28.5%). The meaning of these findings is discussed.

Dermatoglyphics of 81 females with Turner's syndrome are analysed with regard to the cytogenetic findings and they are compared with the data from normal relatives of both sex. The quantitative traits (total ridge count, a-b ridge count, atd angle) are shifted to an elevation of the means. Centric patterns on the hypothenar area as well as a longitudinal alignment of the main lines and transverse creases are found rather frequently. Previous studies are confirmed.

Palm-print and finger-print patterns were studied in a series of 330 patients with congenital heart disease and compared to a control group of 200 patients with acquired heart disease.

156 patiens had associated malformations, while 174 other patients had isolated heart disease. Both groups were studied separately.

Simian creases are more frequent in the malformed patients than in the controls, but the difference is only significant in patients with multiple malformations.

A triradius in the positions t' is seen with a higher frequency in patients with multiple malformations and in patients with isolated heart disease than in the controls. The position t” however is only more frequent in the group of patients with multiple malformations, and tends to be associated more often with a ventricular septal defect and Fallot's tetralogy than with an atrial septum defect, aortic stenosis, coarctation and patent ductus.

Hypothenar patterns are more frequent in patients than in controls.

The results concerning finger-print patterns show a diminished frequency of arches in patients with isolated heart disease compared with controls and patients with multiple malformations. Variations between the different types of congenital heart disease were not important. They are partly in agreement, partly in disagreement with the results of other authors.

21 patients with familial congenital heart disease show an increased frequency of ulnar loops and a low frequency of whorls compared to the rest of patients.

This study does not include classical chromosomal aberrations and no malformation syndromes besides the Holt-Oram syndrome and the supravalvular aortic stenosis syndrome. The first one is characterised by an increased frequency of axial triradius in the t” position and of simian creases, while the second one seems to be without any dermatoglyphic particularity.