Literature DB >> 7328619

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.

M Frydman, F Shabtal, I Halbrecht, E Elian.   

Abstract

A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9qh have been found repeatedly in this syndrome, we feel that this association may be a non-random one.

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Year:  1981        PMID： 7328619      PMCID： PMC1048764          DOI： 10.1136/jmg.18.5.390

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  Prenatal diagnosis of trisomy 9.

Authors:  U Francke; K Benirschke; O W Jones
Journal:  Humangenetik       Date:  1975-09-23

2.  Congenital leukemia associated with mosaic trisomy 9.

Authors:  B W Djernes; S W Soukup; K E Bove; K Y Wong
Journal:  J Pediatr       Date:  1976-04       Impact factor: 4.406

3.  Frequency of 9qh+ and risk of chromosome aberrations in the progeny of individuals with 9qh+.

Authors:  J Nielsen; U Friedrich; A B Hreidarsson; E Zeuthen
Journal:  Humangenetik       Date:  1974

4.  Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques.

Authors:  T Caspersson; J Lindsten; L Zech; K E Buckton; W H Price
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318

5.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

6.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

7.  Down's syndrome transmitted through maternal mosaicism.

Authors:  D Aarskog
Journal:  Acta Paediatr Scand       Date:  1969-11

8.  Trisomy 9 mosaicism in a newborn infant with multiple malformations.

Authors:  P Bowen; K L Ying; G S Chung
Journal:  J Pediatr       Date:  1974-07       Impact factor: 4.406

9.  Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy.

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Humangenetik       Date:  1974

10.  Structural variability of human chromosome 9 in relation to its evolution.

Authors:  I Hansmann
Journal:  Hum Genet       Date:  1976-03-12       Impact factor: 4.132
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  6 in total

Review 1.  Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

Authors:  E M Kuhn; G E Sarto; B J Bates; E Therman
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

2.  Mosaic trisomies in human spontaneous abortions.

Authors:  T Hassold
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

Review 3.  Pericentric inversions. Problems and significance for clinical genetics.

Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Adult case of partial trisomy 9q.

Authors:  Keith Tiong; Andrew Cotterill; Henrik Falhammar
Journal:  BMC Med Genet       Date:  2010-02-16       Impact factor: 2.103

5.  A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line.

Authors:  L R Willatt; B C Davison; D Goudie; J Alexander; H M Dyson; P E Jenks; M E Ferguson-Smith
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

6.  Report of a Case with Trisomy 9 Mosaicism.

Authors:  Mohammad Miryounesi; Mehdi Dianatpour; Zahra Shadmani; Soudeh Ghafouri-Fard
Journal:  Iran J Med Sci       Date:  2016-05
  6 in total

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