No abstract

A family containing three homozygous carriers for a Robertsonian (13q14q) translocation, 44, XX or XY, t(13q14q), t(13q14q), is reported. Their parents are first cousins, and both are heterozygous carriers of the same (13q14q) translocation. The fertility of both the heterozygous and homozygous carriers is discussed.

We report ten cases with 45,X/46,XY karyotype. Cytogenetic and clinical findings have been compared. No constant relationship was found either between blood and gonadal karyotype, or between karyotype and gonadal morphology.

In a previous paper (Sainchez Cascos, 1964) the results of an analysis of the finger-print pattern in a series of 150 patients with congenital heart disease were presented. Statistically significant differences were found between the patients as a whole and a normal control group and also between different diagnostic groups in the series. These differences seemed to be due to a relatively small number of patients who had abnormal patterns, and we suggested that these patients could represent the genetically determined fraction of congenital heart abnormalities.In this paper the results of a palm-print analysis in 150 cases of congenital heart disease are presented. Most of these, but not all, are the same patients as those reported in the earlier paper.The palm-print, like the finger-print, shows a complex pattern of ridges. In such a print the term "triradius" is used to describe a point from which three ridges radiate demarcating three regions, each of which contains a system of almost parallel ridges (Penrose, 1963). The palm-print usually contains five triradii ( Fig. 1 and 2); four of them are found at the base of the second to fifth fingers and are called, respectively, the a, b, c, and d points; the fifth triradius is located near the base of the fourth metacarpal and is called the axial or t triradius. Sometimes the t triradius is displaced distally towards the centre of the palm and the symbols t' and t" are used to indicate progressive distal displacement. Occasionally a t'triradius is found in addition to the normally placed t (Fig. 2), in which case only the abnormal t' triradius is used for the angle measurements described below.The atd angle is under strong genetic control (Penrose, 1954) and its variation has been studied extensively in mongolism and other chromosomal abnormalities. This paper reports a study of this angle and of the triangle based on the a, d, and t points in this series of patients with congenital heart disease. MATERIAL AND METHODS Palm-prints were made from both hands of the 150 patients with congenital heart disease (CHD), all of whom had been investigated in the Department of Cardiology of the Fundacion Jimenez Diaz of Madrid. Only patients in whom the diagnosis was soundly established were included in this study.There were 17 patients with atrial septal defect (ASD), 21 with isolated ventricular defect (VSD), 23 with isolated pulmonary valve stenosis (PS), 34 with Fallot's tetralogy (FT), 18 with aortic stenosis (AS), including valvar and subvalvar varieties, and one with supravalvar stenosis, 7 with aortic coarctation (AC), 12 with persistent ductus arteriosus (PDA), and 18 with various other anomalies (Var). Fifty normal subjects (Nor) were used as controls.From the palm-prints the three angles, atd, tda, and tad were measured and the atd palm triangle was constructed. The t point was described as being in the t°position when the atd angle was 450 or less, in the t' position if it was between 460 and 700, and in the t' position if the angle was 710 or more. The amplitude ...

We present a family, identified through a girl with "Cri-du-chat syndrome", in which two different types of recombinants exist [del(5)(qter leads to p14:) and dup(5)(p13)]. They are due to a 5p paracentric inversion of maternal origin [inv(5)(pter p13)]. We discuss the relationship between the breakpoints and segregation of the inversion carrier, as well as the origin and the identification of the recombinants.