Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences

Tim H.M. Huang; Frank Greenberg; David H. Ledbetter

doi:10.1007/BF00201553

Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences

Tim H.M. Huang
, Frank Greenberg
, David H. Ledbetter

Producción científica: Article › revisión exhaustiva

12 Citas (Scopus)

Resumen

We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin.

Idioma original	English (US)
Páginas (desde-hasta)	619-620
Número de páginas	2
Publicación	Human Genetics
Volumen	86
N.º	6
DOI	https://doi.org/10.1007/BF00201553
Estado	Published - abr 1991
Publicado de forma externa	Sí

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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abstract = "We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80\%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin.",

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N2 - We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin.

AB - We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin.

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Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences

Resumen

ASJC Scopus subject areas

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Huella

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