Complex sSMC Involving X and Y Chromosomes in two Patients with 45,X/46,X,+mar Karyotype

Complex small supernumerary marker chromosomes (sSMCs) consist of chromosomal material derived from two or more different chromosomal regions and constitute one of the smallest subsets of sSMC. Most of complex sSMCs are represented by a der(22)t(11;22) in Emanuel syndrome. As far as we know, only one recent report has described sSMCs involving simultaneously X and Y chromosomes in Turner Syndrome. We report two patients, a female and a male, both with a complex sSMC derived from X and Y chromosomes in mosaic with a 45,X cell line. In both patients, the marker chromosomes were early replicating and the XIST gene was absent. FISH and PCR confirmed the presence of Yp loci (TSPY, AMGY, SRY, DYZ3), and negative for DYZ1. The DAZ4 sequence was present only in patient 1.Our findings suggested that complex sSMC involving X and Y chromosome could be a kind of sSMC of the gonosomes.

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Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome

Clinical Genetics ◽

10.1111/j.1399-0004.1997.tb02450.x ◽

2008 ◽

Vol 51 (3) ◽

pp. 184-190 ◽

Cited By ~ 11

Author(s):

Philippos C. Patsalis ◽

Michael I. Hadjimarcou ◽

Voula Velissariou ◽

Sophia Kitsiou-Tzeli ◽

Christina Zera ◽

...

Keyword(s):

Turner Syndrome ◽

Y Chromosome ◽

Marker Chromosomes ◽

Supernumerary Marker Chromosomes

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FISH – The Best Technique in Characterization of Prenatally Detected Small Supernumerary Marker Chromosomes (sSMC)

International Journal of Pregnancy & Child Birth ◽

10.15406/ipcb.2016.01.00005 ◽

2016 ◽

Vol 1 (1) ◽

Author(s):

Frenny J Sheth ◽

Naznin L ◽

Liehr T ◽

Sheth JJ

Keyword(s):

Marker Chromosomes ◽

Small Supernumerary Marker Chromosomes ◽

Supernumerary Marker Chromosomes

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Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

Cytogenetic and Genome Research ◽

10.1159/000346026 ◽

2013 ◽

Vol 139 (3) ◽

pp. 158-163 ◽

Cited By ~ 27

Author(s):

T. Liehr ◽

E. Klein ◽

K. Mrasek ◽

N. Kosyakova ◽

R.S. Guilherme ◽

...

Keyword(s):

Somatic Mosaicism ◽

Clinical Impact ◽

Marker Chromosomes ◽

Small Supernumerary Marker Chromosomes ◽

Supernumerary Marker Chromosomes

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Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

Balkan Journal of Medical Genetics ◽

10.2478/v10034-008-0024-y ◽

2008 ◽

Vol 11 (2) ◽

pp. 51-58

Author(s):

A Lungeanu ◽

A Arghir ◽

S Arps ◽

G Cardos ◽

N Dumitriu ◽

...

Keyword(s):

Turner Syndrome ◽

Y Chromosome ◽

Ambiguous Genitalia ◽

Peripheral Blood Lymphocytes ◽

Chromosome Y ◽

Y Chromosomes ◽

New Information ◽

Pathway Perturbation

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner SyndromeKaryotype investigations using classical cytogenetics, fluorescencein situhybridization (FISH) and polymerase chain reaction (PCR) techniques were used for the characterization of Y chromosome structural anomalies found in two patients with ambiguous genitalia and features of Turner syndrome. Both exhibited mosaic karyotypes of peripheral blood lymphocytes. The karyotype was 45, X[90]/ 46, X, idic(Y)(p11.3).ish idic(Y) (wcpY+, DXYS130++,SRY++,DYZ3++,DYZ1++, DYS224++)[10] in one case, and the karyotype was 45, X[65]/46, X, idic(Y) (q11).ish idic(Y)(SRY++, RP11-140H23-)[35] in the other case. Derivative Y chromosomes were different in shape and size and positive for the SRY gene, a common underlying element of ambiguous genitalia phenotypes. These results add new information concerning the role of Y chromosome structural abnormalities in sex determination pathway perturbation which are poorly understood, and highlight the importance of the sex chromosomes integrity for a normal sex phenotype development.

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