Literature DB >> 1150275

Partial monosomy 13 as the result of a balanced translocation 3/13 pat.

G Schwanitz, M Reither, G Grosse, C Hägele, U Gutfried.   

Abstract

In a 4 1/3-year old girl we found the karyotype 45, XX, del13(pter yields q12). The father showed a balanced translocation 3/13 (karyotype: 46,XY,t(3;13) (p27;q12). Psychological investigation of the patient revealed almost normal intelligence (DQ91). Clinical symptoms were: low birth weight, growth retardation, dolichocephalus, microgenia, antimongoloid slant of the eyes, edema on hands and feet, strabismus convergens, clubfoot (left), slight decrease in IgA and IgM.

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Mesh：

Year:  1975        PMID： 1150275     DOI： 10.1007/bf00735740

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  5 in total

1.  A case of (13q;18q) translocation with proximal 13q monosomy.

Authors:  Y Suzuki; K Ono; S Oka; T Matsubara; M Arima; Y Nakagome
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

2.  Retinoblastoma and partial deletion of the long arm of chromosome 13.

Authors:  R O Howard; D Warburton; W R Breg; O J Miller; J McKeown; S P Rubin
Journal:  Trans Am Ophthalmol Soc       Date:  1978

3.  Ring chromosome 3 in a retarded boy.

Authors:  R Witkowski; E Ullrich; U Piede
Journal:  Hum Genet       Date:  1978-06-27       Impact factor: 4.132

4.  13q- syndrome. Family study.

Authors:  A Carmichael; D P Addy; W R Shortland-Webb; A H Cameron; I C Davies
Journal:  Arch Dis Child       Date:  1977-12       Impact factor: 3.791

5.  Unbalanced reciprocal translocations in cases of Prader-Willi syndrome.

Authors:  D P Duckett; S H Roberts; P Davies
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  5 in total

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