Not para-, not peri-, but centric inversion of chromosome 12

A N Silahtaroglu; S Hacihanefioglu; G S Güven; A Cenani; J Wirth; Niels Tommerup; Z Tümer

Not para-, not peri-, but centric inversion of chromosome 12

A N Silahtaroglu, S Hacihanefioglu, G S Güven, A Cenani, J Wirth, Niels Tommerup, Z Tümer

9 Citations (Scopus)

Abstract

A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodicentric chromosome. Further FISH analyses using telomeric and subtelomeric probes showed that the other breakpoint was in the subtelomeric region of the short arm. The karyotype is designated 47,XXY,inv(12)(p10p13.3). To our knowledge this is the first report of a case of "centric inversion".

Original language	English
Journal	Journal of Medical Genetics
Volume	35
Issue number	8
Pages (from-to)	682-4
Number of pages	2
ISSN	0022-2593
Publication status	Published - 1998

Cite this

@article{6d14c85003eb11deb05e000ea68e967b,

title = "Not para-, not peri-, but centric inversion of chromosome 12",

abstract = "A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodicentric chromosome. Further FISH analyses using telomeric and subtelomeric probes showed that the other breakpoint was in the subtelomeric region of the short arm. The karyotype is designated 47,XXY,inv(12)(p10p13.3). To our knowledge this is the first report of a case of {"}centric inversion{"}.",

author = "Silahtaroglu, {A N} and S Hacihanefioglu and G{\"u}ven, {G S} and A Cenani and J Wirth and Niels Tommerup and Z T{\"u}mer",

note = "Keywords: Adult; Cells, Cultured; Chromosome Aberrations; Chromosomes, Human, Pair 12; Humans; In Situ Hybridization, Fluorescence; Inversion, Chromosome; Karyotyping; Klinefelter Syndrome; Male; X Chromosome",

year = "1998",

language = "English",

volume = "35",

pages = "682--4",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "B M J Group",

number = "8",

}

TY - JOUR

T1 - Not para-, not peri-, but centric inversion of chromosome 12

AU - Silahtaroglu, A N

AU - Hacihanefioglu, S

AU - Güven, G S

AU - Cenani, A

AU - Wirth, J

AU - Tommerup, Niels

AU - Tümer, Z

N1 - Keywords: Adult; Cells, Cultured; Chromosome Aberrations; Chromosomes, Human, Pair 12; Humans; In Situ Hybridization, Fluorescence; Inversion, Chromosome; Karyotyping; Klinefelter Syndrome; Male; X Chromosome

PY - 1998

Y1 - 1998

N2 - A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodicentric chromosome. Further FISH analyses using telomeric and subtelomeric probes showed that the other breakpoint was in the subtelomeric region of the short arm. The karyotype is designated 47,XXY,inv(12)(p10p13.3). To our knowledge this is the first report of a case of "centric inversion".

AB - A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodicentric chromosome. Further FISH analyses using telomeric and subtelomeric probes showed that the other breakpoint was in the subtelomeric region of the short arm. The karyotype is designated 47,XXY,inv(12)(p10p13.3). To our knowledge this is the first report of a case of "centric inversion".

M3 - Journal article

C2 - 9719380

SN - 0022-2593

VL - 35

SP - 682

EP - 684

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 8

ER -

Not para-, not peri-, but centric inversion of chromosome 12

Abstract

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