In 1919 Castle" 2 showed the dominant English spotting pattern of the rabbit to be closely linked with the recessive Dutch spotting pattern, and in 1924 he published evidence proving that both English and Dutch are linked with Angora. In the latter year I began experiments designed to learn whether or not there exists a corresponding linkage between dominant and recessive spotting in the house ...

Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affected individuals and their families but also on the health care system and society. Previously research has been more focused on the X-linked mental retardation and only recently studies have shown that non-syndromic autosomal recessive mental retardation is e...

BACKGROUND To identify variants likely responsible for Mendelian disorders among the three major ethnic groups in the Bronx that might be useful to include in genetic screening panels or whole exome sequencing filters and to estimate their likely prevalence in these populations. METHODS Variants from a high-density oligonucleotide screen of 192 members from each of the three ethnic-national p...

the sarcoglycanopathies (sgps) are a subgroup of autosomal recessive limb girdle muscular dystrophies (lgmds). they are caused by mutations in gamma, alpha, beta, and delta sarcoglycans (sgs) genes. alpha-sgps are the most frequent form of sgps. muscle biopsy studies in patients with sarcoglycanopathies have indicated that loss of one sg subunit leads to instability of whole sg complex.  autozy...

Dyskeratosis congenita (DC) is characterised by reticulate skin pigmentation, mucosal leucoplakia, and nail dystrophy. Bone marrow failure occurs in 50% of patients and is the principal cause of early mortality. In the majority of families the pattern of inheritance of DC is compatible with an X linked recessive trait. The locus for the X linked recessive form of DC has been linked to Xq28. We ...

We report a pedigree in which six males died of cardiac failure within the first eight months of life. These males were related through healthy females, as with X linked recessive inheritance. There was no consanguinity. None of the affected boys had an anatomical cardiac abnormality. In two affected brothers, histological evidence for endomyocardial fibroelastosis was documented, and in one of...

Heiko Traupe, Universitäts-Hautklinik, Von-Esmarch-Strasse 56, D–4400 Münster (FRG); Rudolf Happle, Department of Dermatology, University of Nijmegen, Javastraat 104, NL-6524 Nijmegen (The Netherlands) Sir, The data of Unamuno et al. [8] on the high incidence of cryptorchidism in X-linked recessive ichthyosis are of considerable interest, in particular to those concerned with pediatric dermatol...

Seven forms of X-linked (XL) immunodeficiency have been described (XL agammaglobulinemia, XL severe combined immunodeficiency [SCID], Wiskott-Aldrich syndrome, XL chronic granulomatous disease, XL hyper-IgM syndrome with low IgG and IgA, and XL lymphoproliferative syndrome), and properdine deficiency. Although there are (some) phenotypic variants, diagnosis is relatively simple on the basis of ...

In 1932, Thomson described an unusual neuroretinal disorder occurring in four male members of an English family. This descrip­ tion is probably the first report in the En­ glish literature of the retinopathy known to­ day as juvenile sex-linked retinoschisis. The descriptive title of "congenital vascular veils in the vitreous" was given to this disorder by Mann and MacRae and subsequently adopt...