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An affected family (five cases and one questionable case) with the hypertelorism-hypospadias syndrome is reported. Inheritance is either autosomal or X-linked dominant.
Sub-epidermal biopsies from normal-appearing skin of the upper arm were obtained from patients with adenomatosis of the colon and rectum (ACR) and their relatives. A total of 78 different fibroblast cell strains were tested for their in vitro growth characteristics (plating efficiency, cloning...
In our previous paper, we identified 32 recurring base oligomers (1 decamer, 4 octamers, 9 heptamers and 18 hexamers) within the coding sequence for the mouse class I major histocompatibility (MHC) antigen H-2Kb. The compilation of these recurring base oligomers led to the conclusion that the...
We studied eight cases of the Rubinstein—Taybi syndrome to determine if a detectable chromosome change is associated with this syndrome. High resolution G-banded analysis of prometaphase chromosomes was carried out on venous blood with two to four karyotypes analyzed for each patient. Initial...
H-Y antigen was tested in 13 humans with testicular tissue and disturbed primary and/or secondary sex differentiation. All cases typed H-Y positive. This finding is in agreement with the idea that testicular tissue only differentiates in the presence of H-Y antigen.
The autonomic dominant form of craniometaphyseal dysplasia was ascertained in three members of a Mexican family. The clinical and radiological features of the affected members are described and the variability of the condition is emphasized. The proband has striking cranial changes, but moderate...
A set of descriptors was developed and used to code patients with 4p or 9p monosomy or trisomy, “blind” as to their karyotype. Techniques of numerical taxonomy were used to classify the patients on the basis of their phenotypic resemblance. As expected, the results confirm strong...
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