Molecular studies in three patients with isodicentric Y chromosome

L Stuppia; G Calabrese; P G Franchi; R Mingarelli; E Morizio; G Sabatino; G Palka

doi:10.1007/s004390050286

Molecular studies in three patients with isodicentric Y chromosome

Hum Genet. 1996 Dec;98(6):691-5. doi: 10.1007/s004390050286.

Authors

L Stuppia¹, G Calabrese, P G Franchi, R Mingarelli, E Morizio, G Sabatino, G Palka

Affiliation

¹ Istituto di Citomorfologia Normale e Patologica del CNR, Chieti, Italy.

PMID: 8931702
DOI: 10.1007/s004390050286

Abstract

Three patients carrying an isodicentric (idic) Y chromosome associated with a mosaic 45,X cell line were studied using molecular techniques. Genotype-phenotype correlations suggested an effect of the 45,X cell line on sexual differentiation. A relationship was established between instability of the idic(Y) chromosome and localization of the breakpoint on Yq, and between azoospermia and deletion of interval 6 on Yq.

MeSH terms

Adult
Child
DNA-Binding Proteins / genetics
Female
Genotype
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
Nuclear Proteins / genetics
Open Reading Frames
Phenotype
Sequence Tagged Sites
Sex Chromosome Aberrations / genetics*
Sex Determination Analysis
Sex-Determining Region Y Protein
Transcription Factors / genetics
Y Chromosome*

Substances

DNA-Binding Proteins
Nuclear Proteins
Sex-Determining Region Y Protein
Transcription Factors