DNA analysis of a patient with two different marker chromosomes using Y-specific DNA probes

Tamura, Takashi; Kuroki, Yoshikazu; Nagafuchi, Shigeo; Suwa, Seizo; Nakahori, Yutaka; Terashima, Kazumitsu; Furusho, Toshiyuki; Nakagome, Yasuo

doi:10.1007/bf01876584

Jap J Human Genet

1991

DOI: 10.1007/bf01876584

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DNA analysis of a patient with two different marker chromosomes using Y-specific DNA probes

Takashi Tamura¹,

Yoshikazu Kuroki

Shigeo Nagafuchi

et al.

Abstract: Summary A female patient with unilateral gonadal dysgenesis was a mosaic for three cell lines, 45,X/46,X,+marI/46,X,+marII, including two different marker chromosomes. DNA analysis using 17 Y-specific DNA probes revealed that each marker consists of different segments of the Y chromosome.

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Cited by 2 publications

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Prenatal identification of i(YP) by molecular cytogenetic analysis

Wang

Peng

et al. 1995

Prenatal Diagnosis

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An i(Yp) is a rare marker chromosome. We present a case of de novo 46,X,i(Yp) detected prenatally in an amniotic fluid specimen. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes identified the marker chromosome as i(Yp). Comparative genomic hybridization (CGH) studies further confirmed the diagnosis. Upon pregnancy termination, external examination of the fetus revealed a generally well-developed male fetus with slight facial dysmorphism and prominent rocker-bottom feet. The molecular cytogenetic data in this case proved very useful in genetic counselling and served as a good example illustrating the important role of molecular techniques for accurate identification of marker chromosomes.

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Prenatal identification of i(YP) by molecular cytogenetic analysis

Wang

Peng

et al. 1995

Prenatal Diagnosis

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The majority of the marker chromosomes in Japanese patients with stigmata of turner syndrome are derived from Y chromosomes

Nagafuchi¹,

Tamura

Nakahori³

et al. 1992

Hum Genet

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DNA analyses of 41 individuals with stigmata of Turner syndrome and a 45,X/46,X+mar or 46,X+mar karyotype were carried out. Southern-blot analysis employing 17 Y-specific probes were used to determine whether the marker chromosome was Y-chromosomal in origin. Of the 41 DNA samples from these patients, 23 contained detectable Y-chromosomal DNA. Points of chromosome breakage were distributed over the entire length of the Y long arm. Three individuals, who carry different portions of the Y chromosome, had developed gonadoblastoma. GBY (the gonadoblastoma locus on the Y chromosome) is mapped proximal to DYS132, midway between the 13 Yq loci that we have studied. We also used a polymerase chain reaction technique that could detect 7 loci over the length of the Y chromosome. This technique may be useful for the rapid assessment of marker chromosomes, especially for evaluating the risk of gonadoblastoma.

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DNA analysis of a patient with two different marker chromosomes using Y-specific DNA probes

Abstract: Summary A female patient with unilateral gonadal dysgenesis was a mosaic for three cell lines, 45,X/46,X,+marI/46,X,+marII, including two different marker chromosomes. DNA analysis using 17 Y-specific DNA probes revealed that each marker consists of different segments of the Y chromosome.

Cited by 2 publications

References 5 publications

Prenatal identification of i(YP) by molecular cytogenetic analysis

Prenatal identification of i(YP) by molecular cytogenetic analysis

The majority of the marker chromosomes in Japanese patients with stigmata of turner syndrome are derived from Y chromosomes

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