Literature DB >> 8728700

Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter-->Xq13.

S M Jalal1, R Dahl, L Erickson, D Zimmerman, N Lindor.   

Abstract

True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xq13. Cytogenetically, it is described as a nonmosaic 46,X,psu idic(X)(q13). Complete duplication of Xpter-->Xq13 was confirmed by banded analysis and FISH probes for X centromere, Xp21, XIST locus, and whole chromosome paints for X and Y. The abnormal X was always late replicating. Clinically, the patient was short statured, had primary amenorrhoea, and incomplete development of secondary sexual characteristics, but otherwise was phenotypically normal. There are no non-mosaic reported cases with complete duplication of i(Xp) confirmed by FISH or molecular techniques. Those cases with partial duplication of Xp and presence of the inactivation centre share the traits of amenorrhoea and poor secondary sexual development. To develop a clinical profile of duplication of Xp (in presence of Xq13) there is a need to study more cases.

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Year:  1996        PMID： 8728700      PMCID： PMC1051876          DOI： 10.1136/jmg.33.3.237

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


  14 in total

1.  Use of fluorescent in situ hybridization for marker chromosome identification in congenital and neoplastic disorders.

Authors:  C R Schad; W J Kraker; S M Jalal; M S Tallman; H N Londer; L P Cook; R B Jenkins
Journal:  Am J Clin Pathol       Date:  1991-08       Impact factor: 2.493

2.  Isochromosome for the short arm of X: a human mosaic 45,x/46,XXpi.

Authors:  P H Fitzgerald; R A Donald
Journal:  Clin Genet       Date:  1975-02       Impact factor: 4.438

3.  Isochromosome for the short arm of X with primary amenorrhoea and a pituitary tumour.

Authors:  E J Keogh; D M De Kretser; M G Fitzgerald
Journal:  Aust N Z J Med       Date:  1973-12

4.  Isochromosome for the short arm of X, a human 46, XXpi syndrome.

Authors:  A De la Chapelle; J Schröder; M Pernu
Journal:  Ann Hum Genet       Date:  1972-07       Impact factor: 1.670

5.  [46, XXip karyotype in a woman with normal stature and gonadal dysgenesis without other congenital anomalies].

Authors:  H Van den Berghe; J P Fryns; F Devos
Journal:  Humangenetik       Date:  1973

6.  The nature of structural X chromosome aberrations in Turner's syndrome as revealed by quinacrine mustard fluorescence analysis.

Authors:  T Caspersson; J Lindsten; L Zech
Journal:  Hereditas       Date:  1970       Impact factor: 3.271

7.  Method for sequential staining of GTL-banded metaphases with fluorescent-labeled chromosome-specific paint probes.

Authors:  S M Jalal; M E Law; E R Christensen; J L Spurbeck; G W Dewald
Journal:  Am J Med Genet       Date:  1993-04-01

8.  The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism.

Authors:  E B Hook; D Warburton
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

9.  Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter).

Authors:  A Daniel; T Saville; D B Southall
Journal:  J Med Genet       Date:  1979-08       Impact factor: 6.318

10.  Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST.

Authors:  K A Leppig; C J Brown; S L Bressler; K Gustashaw; R A Pagon; H F Willard; C M Disteche
Journal:  Hum Mol Genet       Date:  1993-07       Impact factor: 6.150
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  1 in total

Review 1.  Three patients with a 45,X/46,X,psu dic(Xp) karyotype.

Authors:  P Dalton; B Coppin; R James; D Skuse; P Jacobs
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318
  1 in total

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