Literature DB >> 7215394

Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p.

E Gödde-Salz, H Behnke.   

Abstract

A mentally retarded female with aniridia, microcephaly and no other major malformations has been studied using G-banded prometaphase chromosomes. This study revealed a reciprocal translocation of chromosome 8 and chromosome 11 with one break point in 8q and two breakpoints in 11p. An interstitial segment of 11p is lost. Both parents have a normal karyotype. The importance of chromosome analyses of patients with aniridia and mental retardation is discussed.

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Mesh：

Year:  1981        PMID： 7215394     DOI： 10.1007/bf00441719

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  6 in total

1.  Aniridia caused by a heritable chromosome 11 deletion.

Authors:  H M Hittner; V M Riccardi; U Francke
Journal:  Ophthalmology       Date:  1979-06       Impact factor: 12.079

2.  Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.

Authors:  V M Riccardi; E Sujansky; A C Smith; U Francke
Journal:  Pediatrics       Date:  1978-04       Impact factor: 7.124

3.  Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13.

Authors:  U Francke; L B Holmes; L Atkins; V M Riccardi
Journal:  Cytogenet Cell Genet       Date:  1979

4.  Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p.

Authors:  U Francke; D L George; M G Brown; V M Riccardi
Journal:  Cytogenet Cell Genet       Date:  1977

5.  The characterization of high-resolution G-banded chromosomes of man.

Authors:  J J Yunis; J R Sawyer; D W Ball
Journal:  Chromosoma       Date:  1978-08-14       Impact factor: 4.316

6.  Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.

Authors:  S R Andersen; P Geertinger; H W Larsen; M Mikkelsen; A Parving; S Vestermark; M Warburg
Journal:  Ophthalmologica       Date:  1977       Impact factor: 3.250
  6 in total
  7 in total

1.  Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

Authors:  J W Moore; S Hyman; S E Antonarakis; E H Mules; G H Thomas
Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

2.  Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions.

Authors:  M Mannens; R M Slater; C Heyting; A Geurts van Kessel; E Goedde-Salz; R R Frants; G J Van Ommen; P L Pearson
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

Review 3.  Microdeletion syndromes, balanced translocations, and gene mapping.

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

4.  Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient.

Authors:  H Puissant; M Azoulay; J L Serre; L L Piet; C Junien
Journal:  Hum Genet       Date:  1988-07       Impact factor: 4.132

5.  Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.

Authors:  K Narahara; K Kikkawa; S Kimira; H Kimoto; M Ogata; R Kasai; M Hamawaki; K Matsuoka
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity.

Authors:  N Niikawa; Y Fukushima; N Taniguchi; S Iizuka; T Kajii
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  Aniridia and Wilm's tumor.

Authors:  Manisha Nada; K N Rattan; Sarita Magu; Sanjeev Parshad
Journal:  Indian J Pediatr       Date:  2003-10       Impact factor: 1.967
  7 in total

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