Characterization of Y chromosomal deoxyribonucleic acid fragments and translocations by southern blot analysis

Harry Ostrer, Amelia L. Henderson, L. Clarence Stringer

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Hybridization of Y chromosome-specific probes to Southern blots of genomic deoxyribonucleic acid from patients with chromosomal variants permits direct and rapid characterization of the chromosomal content. We have used two single-copy Y chromosomal sequences specific for the short arm (47z and DP34) and one repeated sequence specific to the long arm (Y3.4) to study several patients with different types of sex chromosomal abnormalities, including three patients with gonadal dysgenesis and the karyotype 45,X/46,X + fragment, two females with Y autosomal translocations involving similar regions of the Y chromosome (46,XX,t(Y;14)(q11,p11)) and 46,XY, t(Y;15)(q11,p11)), two males with very small Y chromosomes (del(Y)(q12) and i(Yp)), and a 45,X male with a small Y autosomal translocation. These techniques are more sensitive than chromosome banding and thus are an important adjunct to karyotyping for analysis of chromosomal content. For patients with gonadal dysgenesis and uncharacterized fragments, demonstration of Y chromosomal sequences identifies an important risk factor for the development of gonadoblastoma. For other patients, accurate identification of Y chromosomal content may facilitate prediction of the patient's phenotype.

Original languageEnglish (US)
Pages (from-to)678-683
Number of pages6
JournalThe Journal of Pediatrics
Volume111
Issue number5
DOIs
StatePublished - 1987
Externally publishedYes

Fingerprint

Southern Blotting
Y Chromosome
DNA
Gonadoblastoma
Chromosome Banding
Gonadal Dysgenesis
Karyotyping
Turner Syndrome
Karyotype
Chromosome Aberrations
Phenotype

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Characterization of Y chromosomal deoxyribonucleic acid fragments and translocations by southern blot analysis. / Ostrer, Harry; Henderson, Amelia L.; Stringer, L. Clarence.

In: The Journal of Pediatrics, Vol. 111, No. 5, 1987, p. 678-683.

Research output: Contribution to journalArticle

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