Segregating Reciprocal (4;21) (q21;q21) Translocation with Proposita Trisomic for Parts of 4q and 21

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منابع مشابه

Reciprocal translocation, 4q-; 21p+, giving rise to Down's syndrome.

A reciprocal translocation is described, t(4;21)(q27;p11), which occurs in a balanced carrier mother and her Down's syndrome child, 47,XX,t(4q-;21p+),+21. A review is presented of Down's syndrome associated with reciprocal translations involving chromosome No. 21.

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Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

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Translocation and trisomic Down's syndrome in a family with a familial D-G translocation.

The reports on familial Down's syndrome (mongolism) date in the medical literature from the 20th years of this century. Familial Down's syndrome is now well-described event but relatively rare. Penrose states that pairs of affected sibs appear about once for every 100 single cases of mongolism collected at random (quoted by Soltan et al. 1964). About two-thirds of the mongoloids are close relat...

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A de novo reciprocal t(2;18) translocation with regular trisomy 21.

A 4-year-old girl with Down syndrome exhibited an autosomal translocation t(2;18) in addition to trisomy 21. An evaluation of GTG-banded metaphases revealed the karyotype 47,XX,t(2;18),21 that was confirmed by using fluorescent in situ hybridization (FISH) probes. This case represents a very rare coincidence of an autosomal aneuploidy and a structural rearrangement. Her parents showed a normal ...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1973

ISSN: 1468-6244

DOI: 10.1136/jmg.10.4.384