منابع مشابه
Two children with partial trisomy for 7p.
A second family in which a balanced translocation between 7p and 22q is segregating is described. The clinical features of 2 children with a resulting partial trisomy for 7p are described and compared with the previously described case.
متن کاملPartial trisomy 7p associated with familial 7p;22q translocation.
A newly described partial trisomy of the short arm of chromosome number 7 is reported in a familial translocation between 7 and 22. The unbalanced translocation was found in one family member, the propositus, and the balanced form in 5 other members. The possibility of this translocation being a rare telomeric attachment previously undescribed in humans is discussed. Prominent clinical features...
متن کاملTwo Cases of Partial Trisomy 4p and Partial Trisomy 14q
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent gro...
متن کاملPartial trisomy 7 (q32----qter) syndrome in two children.
Two unrelated children are described with a partial trisomy 7 (q32----qter). Their phenotypes are compared with other reported cases with both this trisomy and others of the 7q arm. Several apparently useful pathognomonic features are distinguished. The phenotypic variability between trisomic persons within and between families is discussed. It is suggested that the disparate monosomies always ...
متن کاملPartial 10q trisomy with partial 12q monosomy.
A case of partial trisomy 10q with partial monosomy 12q is reported. The chromosomal abnormalities resulted from a paternal balanced, reciprocal translocation involving chromosomes 10 and 12, which, to the best of our knowledge, has not been previously described.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1979
ISSN: 1468-6244
DOI: 10.1136/jmg.16.4.320