Insertional Translocation into the X Chromosome of a 46,XY Male

Overview

Journal Clin Genet

Specialty Genetics

Date 1977 Aug 1

PMID 891012

Citations 6

Authors

R S Sparkes

W J Salter

R G Blaker

H M Muller

Affiliations

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Abstract

A baby boy with multiple congenital anomalies and low birth weight has an apparent de novo insertional translocation into the long arm of his only X chromosome. The origin of the translocated material is not evident and both cytogenetic and X-linked marker studies do not indicate any loss of genetic material from the X chromosome. His findings are compared with other males who have X-translocations, none of which appear to be insertional translocations.

Citing Articles

Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation.

Steinbach P, Horstmann W, Scholz W Hum Genet. 1980; 54(3):309-13.

PMID: 7399525 DOI: 10.1007/BF00291574.

A familial insertion involving an active nucleolar organiser within chromosome 12.

Watt J, Couzin D, LLOYD D, Stephen G, McKay E J Med Genet. 1984; 21(5):379-84.

PMID: 6502652 PMC: 1049324. DOI: 10.1136/jmg.21.5.379.

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.

Cremers F, Pfeiffer R, van de Pol T, Hofker M, Kruse T, Wieringa B Hum Genet. 1987; 77(1):23-7.

PMID: 3476455 DOI: 10.1007/BF00284707.

Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error.

Schwartz S, SCHWARTZ M, Panny S, Peterson C, Waters E, COHEN M Am J Hum Genet. 1986; 38(5):741-50.

PMID: 3459356 PMC: 1684824.

Prenatal diagnosis of inv(X)(q12q28) in a male fetus.

NEU R, Brar H, Koos B J Med Genet. 1988; 25(1):52-3.

PMID: 3351892 PMC: 1015424. DOI: 10.1136/jmg.25.1.52.