Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia
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منابع مشابه
Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia.
Mesomelic dysplasia (MD) is characterised by mildly short stature and shortening of the middle segments of the limbs. There are several subtypes of MD including dyschondrosteosis (Leri-Weill type), Langer type, Nivergelt type, Robinow type, Reinhardt type, Kozlowski-Reardon type, Werner type, and mesomelic dysplasia with synostoses. Ventruto et al reported an Italian family in which four member...
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cases found that 11 patients (61.1%) had a homozygous deletion of a 200‐kb fragment of the DPY19L gene, two (11.1%) had a homozygous nonsynonymous mutation in exon 8 (p.R298C), one (5.6%) had a homozygous new splice site mutation at the junction of exon‐intron 16 (c.1579_1580 + 4delAGGTAAinsTCAT), and four (22.2%) had no mutations in DPY19L2, SPATA16, or PICK1.4 In humans, the DPY19L2 gene is l...
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an apparently balanced reciprocal translocation. The proband was a 37-year-old Vietnamese Chinese male with an 8-year history of primary infertility owing to azoospermia. He was hypogonadal with small testes, and his 33-year-old brother had presented independently with a similar clinical picture of 5 years' primary infertility owing to azoospermia. A third brother, aged 27 years, was single and...
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Reciprocal translocation carriers have reduced fertility, increased risk of spontaneous abortion or unbalanced karyotype in their offspring. Here, we report the inheritance of a translocation between chromosomes 12 and 16 in a family with a history of five consecutive blighted ova and an offspring with three cell lines of different genotypes. We assessed parental karyotypes and identified a het...
متن کاملCan Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?
BACKGROUND We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. METHODS Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschond...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.7.e34