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Literature DB >> 4018792

A familial X-autosome translocation with the breakpoint in the "critical region".

Abstract

We report a case of an X-autosome translocation t(X;4)(q13;p16) found in both sexes in three generations. The anomaly was diagnosed in a couple referred for cytogenetic investigation as a result of three spontaneous abortions. With the exception of the miscarriages there are no particularities in the gynecologic data of the woman or in the pedigree. In all 50 lymphocytes and in 66 of 68 fibroblasts investigated the normal X chromosome was the late replicating one.

Entities: Disease Gene Species

Mesh：

Year: 1985 PMID： 4018792 DOI： 10.1007/bf00273458

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

12 in total

1. Spreading of inactivation in an (X;14) translocation.

Authors: P W Allderdice; O J Miller; D A Miller; H P Klinger
Journal: Am J Med Genet Date: 1978

2. A rapid banding technique for routine use in human and comparative cytogenetics.

Authors: K Sperling; R Wiesner
Journal: Humangenetik Date: 1972

3. A case of partial trisomy 17 resulting from X-autosomal translocation.

Authors: Y Yamamoto; Y Endo; Y Kuroki
Journal: J Med Genet Date: 1979-10 Impact factor: 6.318

4. H-Y antigen in Turner's syndrome patients with different sex chromosome constitutions.

Authors: W Engel; B Klemme; H D Probeck; I Hansmann
Journal: Hum Genet Date: 1981 Impact factor: 4.132

5. Structural anomalies of the X chromosome and inactivation center.

Authors: M G Mattei; J F Mattei; I Vidal; F Giraud
Journal: Hum Genet Date: 1981 Impact factor: 4.132

6. Mid-prophase human chromosomes. The attainment of 2000 bands.

Authors: J J Yunis
Journal: Hum Genet Date: 1981 Impact factor: 4.132

7. Primary and secondary nonrandom X chromosome inactivation in early female mouse embryos carrying Searle's translocation T(X; 16)16H.

Authors: N Takagi
Journal: Chromosoma Date: 1980 Impact factor: 4.316

Review 1. The critical region on the human Xq.

Authors: E Therman; R Laxova; B Susman
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132

Review 2. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors: T Ogata; N Matsuo
Journal: Hum Genet Date: 1995-06 Impact factor: 4.132

2 in total