Identification of Isochromosome 17 in a Girl with Mental Retardation and Congenital Malformations

Overview

Journal Ann Genet

Publisher Elsevier

Specialty Genetics

Date 1975 Dec 1

PMID 1083191

Citations 6

Authors

F Salamanca-Gomez

S ARMENDARES

Affiliations

Soon will be listed here.

Abstract

An isochromosome 17 was found in all analyzed cells of a mentally retarded and malformed girl. As the abnormal chromosome displayed a polymorphic distal band also observed in chromosome 17 of the father, it is suggested that the abnormal chromosome is the result of a non sister chromatid interchange at the level of the centromeric region of chromosomes 17 in paternal meiosis.

Citing Articles

A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23).

Shawe D, Fear C, Appleyard W J Med Genet. 1983; 20(5):383-5.

PMID: 6196484 PMC: 1049156. DOI: 10.1136/jmg.20.5.383.

A new case of partial trisomy of 17 long arm. Densitometric analysis of aberrations.

Parcheta B, Skawinski W, Wisniewski L, Piontek E, Gutkowska A, Wermenski K Eur J Pediatr. 1985; 143(4):314-6.

PMID: 3987734 DOI: 10.1007/BF00442311.

Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.

LARSON L, WASDAHL W, Saumur J, Coleman M, Jalal S J Med Genet. 1978; 15(1):73-6.

PMID: 633320 PMC: 1012828. DOI: 10.1136/jmg.15.1.73.

Pure trisomy 17p in 60% cells.

Shabtai F, Shalev A, CHEMKE J, HALBRECHT I, ELIAN E Hum Genet. 1979; 52(3):263-8.

PMID: 535886 DOI: 10.1007/BF00278675.

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

Yamamoto Y, Endo Y, Kuroki Y J Med Genet. 1979; 16(5):395-9.

PMID: 513087 PMC: 1012618. DOI: 10.1136/jmg.16.5.395.