Literature DB >> 7390498

A duplication-deficiency X chromosome in a girl with severe mental retardation.

N Sacchi, L Dalprà, E Kehyayan.   

Abstract

Clinical and cytogenetic findings in a 14-year-old girl with severe mental retardation and partial Turner's syndrome are reported. An anomalous X was observed in the patient's karyotype. On the basis of QFQ, GAG and RBA banding studies, an Xq duplication (q12 leads to qter) and an Xp deficiency (p22 leads to pter) were apparent in this chromosome.

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Mesh：

Year:  1980        PMID： 7390498     DOI： 10.1007/bf00278986

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  Apparently isodicentric but functionally monocentric X chromosome in man.

Authors:  E Therman; G E Sarto; K Patau
Journal:  Am J Hum Genet       Date:  1974-01       Impact factor: 11.025

2.  An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry.

Authors:  C Distèche; A Hagemeijer; J Frederic; D Progneaux
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

3.  Familial x/x translocation: t(x;x)(p22;q13)

Authors:  H J Kim; L Y Hsu; K Hirschhorn
Journal:  Cytogenet Cell Genet       Date:  1974

4.  X-X translocation in a patient with Turner's syndrome.

Authors:  H Van den Berghe; J P Fryns; C Soyez
Journal:  Humangenetik       Date:  1973-12-20

5.  [Gonadal dysgenesis with an unusual structural anomaly in an X chromosome (45,X-46,XXq+)].

Authors:  A Dollmann; W Nocke; S Stengel-Rutkowski
Journal:  Humangenetik       Date:  1972

6.  [The mechanism of chromosome segmentation induced by BUDR (5-bromodeoxyuridine)].

Authors:  B Dutrillaux; A M Fosse
Journal:  Ann Genet       Date:  1974-09

7.  Recombinant chromosome as a result of pericentric inversion of X chromosome.

Authors:  J Nikolis; E Stolević
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

8.  Differences in human X isochromosomes.

Authors:  J H Priest; R D Blackston; K S Au; S L Ray
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

9.  [Four new cases of X-autosome translocation in man (author's transl)].

Authors:  C Laurent; M C Biemont; B Dutrillaux
Journal:  Humangenetik       Date:  1975

10.  Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inversion X chromosome.

Authors:  T Maeda; M Ohno; M Takada; M Nishida; K Tsukioka; H Tomita
Journal:  Clin Genet       Date:  1979-03       Impact factor: 4.438
  10 in total
  3 in total

1.  Inactivation centers in the human X chromosome.

Authors:  Y Nakagome
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

2.  Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency.

Authors:  L B Nielsen; K Boczkowski; M Mikkelsen; G Dahl; E Andersen
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  Inherited partial X chromosome duplication in a mentally retarded male.

Authors:  K B Nielsen; F Langkjaer
Journal:  J Med Genet       Date:  1982-06       Impact factor: 6.318
  3 in total

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