At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.
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چکیده
منابع مشابه
At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.
Carriers of balanced reciprocal translocations may have a (high) risk for producing liveborn children with an unbalanced karyotype. We report a large family in which a translocation between the long arm of chromosome 11 and the short arm of chromosome 13 is segregating in at least five generations. During the course of our study 15 carriers of the balanced translocation were identified and nine...
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...
متن کاملPartial trisomy 16 as a result of familial 16;20 translocation.
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.
متن کاملTrisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents.
A newborn male infant with multiple congenital abnormalities was found to be trisomic for 3p23----pter and monosomic for 11q23----qter. His parents were both carriers of a balanced reciprocal translocation. Considerable overlap in phenotype-karyotype correlations was found between the two chromosomal syndromes in the patient.
متن کاملFamilial distal trisomy 8(q24.13----qter).
Trisomy for the distal part of the long arm of chromosome 8(q24.13----qter) is described in three sibs. The anomaly arose as an adjacent 1 meiotic segregation from a balanced reciprocal translocation t(1;8)(q44; q24.13)mat.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.1.18