Literature DB >> 3712398

Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement.

M H Bogart, C L Bradshaw, O W Jones, J E Schanberger.   

Abstract

A case of de novo, apparently balanced, three way exchange by translocation plus a pericentric inversion is described. The karyotype is 46,XX,t(6;11)(p21;q21),t(11;21) (q21;p13),inv(6)(p21q11) and was ascertained through second trimester amniocentesis. The structural rearrangements appear balanced. The child was phenotypically normal at birth. Growth and motor development were normal until 30 months, at which time linear growth dropped below the 5th centile. In addition, there was delayed speech development at 2 years of age. As far as we can determine, this is the first report of a three chromosome exchange including a pericentric inversion ascertained through genetic amniocentesis.

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Year:  1986        PMID： 3712398      PMCID： PMC1049579          DOI： 10.1136/jmg.23.2.180

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


  18 in total

1.  Familial balanced (7;11;21) translocation and Down's syndrome in two siblings.

Authors:  E Schwinger; M Mikkelsen; M Niesen
Journal:  Clin Genet       Date:  1975-04       Impact factor: 4.438

2.  Partial trisomy 11,46,XX,-3,-20, + der3, + der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20.

Authors:  C G Palmer; C Poland; T Reed; J Kojetin
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

3.  Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome.

Authors:  B Dallapiccola; G Bollea; C Mazzilli; E Gandini
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

4.  Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13.

Authors:  O Sanchez; J J Yunis; J I Escobar
Journal:  Humangenetik       Date:  1974-04-24

5.  Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence.

Authors:  P W Allderdice; O J Miller; D A Miller; W R Breg; E Gendel; C Zelson
Journal:  Humangenetik       Date:  1971

6.  A case of multople chromosomal rearrangements with persistence of foetal haemoglobin.

Authors:  F Nuzzo; A Marini; C Baglioni; C E Ford; L De Carli; L Piceni Sereni
Journal:  Cytogenetics       Date:  1968

7.  Trisomy 9p due to a maternal complex translocation involving chromosomes 4, 6 and 9.

Authors:  N Tanaka; T Ikeuchi; I Yara; K Kitahara
Journal:  Jinrui Idengaku Zasshi       Date:  1977-03

8.  Possible complex translocation t(9;14;13) (q12;pl?;Q31) in mother of a child with 9-p trisomy syndrome.

Authors:  H Fujita; T Abe; K Yamamoto; J Furuyama
Journal:  Humangenetik       Date:  1974

9.  A familial reciprocal translocation between three chromosomes.

Authors:  M R Creasy; J A Crolla; M G Daker
Journal:  Humangenetik       Date:  1974

10.  A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.

Authors:  D A Couzin; J L Watt; I A Auchterlonie
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318
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  2 in total

1.  De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

Authors:  D Warburton
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

2.  Array-CGH detection of three cryptic submicroscopic imbalances in a complex chromosome rearrangement.

Authors:  Yanliang Zhang; Yong Dai; Zhiguang Tu; Qiyun Li; Li Zhang; Linqian Wang
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166
  2 in total

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