Partial trisomy for 7p due to maternal balanced 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 کاملPartial trisomy 9q due to maternal 9q 17q translocation.
Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is un...
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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Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal segment involved. Monosomy 2p is usually observed as a part of more complex syndromes among probands of balanced reciprocal translocation carriers. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the 4q and specific...
متن کاملReproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.
Two cases of 14q proximal partial trisomy in sisters from the same family are reported. Clinical features included craniofacial dysmorphism, skin depigmentation, slight anomalies of the limbs, muscular hypertonia, and physical and mental retardation. The third sister had an abnormal phenotype, different from that of her sibs, and proved to be a carrier of a balanced translocation (2;14)(q36;q21...
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ژورنال
عنوان ژورنال: Japanese journal of human genetics
سال: 1983
ISSN: 0021-5074
DOI: 10.1007/bf01876794