A small supernumerary marker chromosome X identified by in situ hybridization

A N Silahtaroglu; S Hacihanefioglu; S Yilmaz; Y Tarkan; A Cenani; Z Tümer

doi:10.1111/j.1399-0004.1995.tb04310.x

A small supernumerary marker chromosome X identified by in situ hybridization

A N Silahtaroglu, S Hacihanefioglu, S Yilmaz, Y Tarkan, A Cenani, Z Tümer

7 Citationer (Scopus)

Abstract

Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome.

Originalsprog	Engelsk
Tidsskrift	Clinical Genetics
Vol/bind	47
Udgave nummer	5
Sider (fra-til)	270-3
Antal sider	4
ISSN	0009-9163
DOI	https://doi.org/10.1111/j.1399-0004.1995.tb04310.x
Status	Udgivet - maj 1995
Udgivet eksternt	Ja

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10.1111/j.1399-0004.1995.tb04310.x

Citationsformater

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title = "A small supernumerary marker chromosome X identified by in situ hybridization",

abstract = "Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome.",

keywords = "Child, Chromosome Aberrations, Chromosome Disorders, DNA Probes, DNA, Satellite, Face/abnormalities, Female, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability/genetics, Karyotyping, Speech Disorders/genetics, X Chromosome",

author = "Silahtaroglu, {A N} and S Hacihanefioglu and S Yilmaz and Y Tarkan and A Cenani and Z T{\"u}mer",

year = "1995",

month = may,

doi = "10.1111/j.1399-0004.1995.tb04310.x",

language = "English",

volume = "47",

pages = "270--3",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Munksgaard",

number = "5",

}

TY - JOUR

T1 - A small supernumerary marker chromosome X identified by in situ hybridization

AU - Silahtaroglu, A N

AU - Hacihanefioglu, S

AU - Yilmaz, S

AU - Tarkan, Y

AU - Cenani, A

AU - Tümer, Z

PY - 1995/5

Y1 - 1995/5

N2 - Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome.

AB - Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome.

KW - Child

KW - Chromosome Aberrations

KW - Chromosome Disorders

KW - DNA Probes

KW - DNA, Satellite

KW - Face/abnormalities

KW - Female

KW - Genetic Markers

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Intellectual Disability/genetics

KW - Karyotyping

KW - Speech Disorders/genetics

KW - X Chromosome

U2 - 10.1111/j.1399-0004.1995.tb04310.x

DO - 10.1111/j.1399-0004.1995.tb04310.x

M3 - Journal article

C2 - 7554355

SN - 0009-9163

VL - 47

SP - 270

EP - 273

JO - Clinical Genetics

JF - Clinical Genetics

IS - 5

ER -

A small supernumerary marker chromosome X identified by in situ hybridization

Abstract

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