Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene

2017 ◽  
Vol 176 (2) ◽  
pp. 443-449 ◽  
Author(s):  
András Szabó ◽  
Márta Czakó ◽  
Kinga Hadzsiev ◽  
Balázs Duga ◽  
Zsolt Bánfai ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Ring Chromosome ◽  
Chromosome 15 ◽  
Small Supernumerary Marker Chromosome

A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss

2018 ◽  
Vol 156 (4) ◽  
pp. 179-184
Author(s):  
Vida Čulić ◽  
Ruzica Lasan-Trcić ◽  
Thomas Liehr ◽  
Igor N. Lebedev ◽  
Maja Pivić ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
De Novo ◽  
Marker Chromosome ◽  
Chromosome 9 ◽  
Chromosome 15 ◽  
Normal Female ◽  
Fish Analysis ◽  
Spontaneous Abortions ◽  
Small Supernumerary Marker Chromosome ◽  
Trisomy 9

We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases. In FISH analysis, the patient's karyotype was mos 47,XX,+idic(15)(q11.1)mat[100]/49,XX,+idic(15)(q11.1)mat,+r(9;9;9;9),+der(9)dn[2]. The second spontaneous abortion had trisomy 9 (47,XX,+9); the third had mosaic trisomy 9 in 21% of the nuclei and isodicentric chromosome 15 in 36% of the nuclei (mos 48,XN,+9,+idic(15)(q11.1)/47,XN,+9/47,XN,+idic(15)(q11.1)/46,XN). The first and fourth abortions were not cytogenetically studied. The cause of the spontaneous abortions in this patient is likely the cryptic mosaicism for ring and minute chromosomes 9, and gonadal mosaicism is most probable, due to the 2 abortions.

scholarly journals A case of a small supernumerary ring chromosome r(20)(p12q12) in a 3-year-old boy with facial anomalies and speech delay

2020 ◽  
pp. 51-55
Author(s):  
В.Г. Антоненко ◽  
Д.В. Светличная ◽  
М.Е. Миньженкова ◽  
Н.В. Шилова ◽  
С.Г. Калиненкова
Keyword(s):  
Marker Chromosome ◽  
Ring Chromosome ◽  
Speech Delay ◽  
Small Supernumerary Marker Chromosome ◽  
Facial Anomalies

Представлен случай малой сверхчисленной маркерной хромосомы (мСМХ) у мальчика трех лет с лицевыми аномалиями и речевыми нарушениями. Структура маркерной хромосомы, установленная при FISH-анализе, была определена как r(20)(p12q12). Обсуждаются проблемы мСМХ, содержащих только околоцентромерные области, и вопросы корреляции генотип-фенотип. We report on a case of small supernumerary marker chromosome (sSMC) in a 3-year boy with facial anomalies and speech delay. The constitution of marker chromosome was designated by mFISH analysis as r(20)(p12q12). The problems of diagnostics of sSMC, containing the pericentromeric regions only, and genotype-phenotype correlations are discussied.

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