A cytogenetic study of familial deafness.
نویسندگان
چکیده
منابع مشابه
Mutation Analysis of Connexin 26 Gene and Del (GJB6-D13S1830) in Patients with Hereditary Deafness from Two Provinces in Iran
Mutations in the connexin 26 (Cx26) gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non-syndromic hearing loss (ARNSHL). There are many known mutations in this gene that cause hearing loss. A single frameshift, at position 35 (35delG) accounts for 50% of mutations in the Caucasian population with carrier frequencies of 1.5-2.5%. In this study we investigated ...
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Cytogenetic analysis of a male infant referred for poor neurological development and failure to thrive showed a microdeletion of the X chromosome, his karyotype being 46,Y,del(X)(pter----q21.1:: q21.2----qter). His mother and grandmother were also found to carry the deletion. DNA probes were used to define the deletion molecularly and it was shown to span intervals 2 to 6 of Cremers et al, a po...
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Conditions causing familial ataxia, deafness, and developmental delay are considered in the context of describing brothers with a new disorder characterised by these clinical features.
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عنوان ژورنال:
- Journal of medical genetics
دوره 6 3 شماره
صفحات -
تاریخ انتشار 1969