Partial trisomy 7p associated with familial 7p;22q translocation.
نویسندگان
چکیده
منابع مشابه
Partial 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 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.
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Although trisomy 16 is well recognised in spontaneous abortuses, it is infrequent in livebirths and there is little information about the clinical effects. We report two sibs with partial trisomy 16q resulting in infant death. Both children were severely growth retarded with small elfin faces, prominent foreheads, low set ears, abnormal external genitalia, and intractable diarrhoea.
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متن کاملPartial trisomy 13q22-->qter and monosomy 18q21-->qter as a result of familial translocation.
We report on a patient with a partial trisomy of chromosome 13q22-->qter and partial monosomy of chromosome 18q21-->qter showing distinct malformations. The phenotype of this unbalanced karyotype has not been previously described. The proband had a craniofacial dysmorphism, neck pterygium, closed fists with overlapping fingers, cutaneous appendix of the left fist, equinovarus and postaxial hexa...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1977
ISSN: 1468-6244
DOI: 10.1136/jmg.14.4.258