Double Aneuploidy in Down Syndrome

Söylemez, Fatma

doi:10.5772/60438

Cited by 5 publications

(1 citation statement)

References 50 publications

(42 reference statements)

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“…An example is Down-Turner syndrome which is very rare and was estimated to occur with a frequency of ~1 in 2 million births (Musarella & Verma 2001). Other types of aneuploidy that have been reported to simultaneously occur with Down syndrome include Down-Klinefelter, Patau/Down, Edwards/Down, 47,XXX/Down, 47,XYY/Down (Soylemez 2015).…”

Section: Aneuploidiesmentioning

confidence: 99%

A Rare Case of a Male Infant with Down-Turner Syndrome and Review of Cases

Shuib¹

2019

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Individuals with double aneuploidy of Down-Turner syndrome are very rare and to date, fewer than 50 cases have been reported, worlwide. We report a case of a male infant who presented with dysmorphic features of upslanting eyes, flat nasal bridge, wide spaced nipples and macroglossia. Based on the clinical features, he was diagnosed with Down syndrome. His peripheral blood sample was taken and sent for cytogenetic analysis for confirmation. Chromosome analysis of his lymphocyte cell culture revealed a mosaic pattern of double aneuploidy with monosomy X identified in 31 metaphases and trisomy 21 in 14 metaphases: (45,X[31]/47,XY,+21[14]). Further analysis with fluorescence in situ hybridization (FISH) using Vysis LSI SRY Spectrum Orange/CEP X Spectrum Green Probe and Vysis CEP Y Spectrum Aqua Probe and Vysis LSI 21 Spectrum Orange Probe performed on the cells (nuclei and metaphases) has confirmed the presence of the abnormal two cell lines (81% monosomy X and 19% trisomy 21) in the patient. Ultrasound investigations of his pelvic region showed normal testes and no evidence of uterus, ovary or vagina. To the best of our knowledge, this is the first Down-Turner syndrome reported in Malaysia. In conclusion, this case demonstrates the importance of Giemsa-banded karyotype and FISH analyses as diagnostic tools in identifying the chromosomal abnormality and determining the ratio of the normal:abnormal cells present in the patient. An annotated bibliography of earlier reported cases of Down-Turner with documented karyotyping is also included in this report.

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Section: Aneuploidiesmentioning

confidence: 99%

A Rare Case of a Male Infant with Down-Turner Syndrome and Review of Cases

Shuib¹

2019

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A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin

McGregor-Schuerman

Sang²,

Bihari³

et al. 2020

European Journal of Medical Genetics

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Prevalencia de mosaicismos cromosómicos en 2.500 estudios citogenéticos realizados en un laboratorio de genética en el Estado de Rio de Janeiro, Brasil

et al. 2020

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Mosaicismo cromossômico é definido como a existência de duas ou mais linhagens celulares com diferentes constituições cromossômicas em um mesmo indivíduo. Este trabalho tem como objetivo analisar a prevalência de mosaicismo cromossômico a partir de 2.500 pacientes que realizaram estudo citogenético em um laboratório de genética localizado em um município do Estado do Rio de Janeiro, RJ, no período de 04/2011 a 01/2020. Dos 2.500 exames de cariótipo analisados, 19 apresentaram mosaicismo cromossômico, sendo nove do sexo feminino, oito do sexo masculino e dois casos de sexo indefinidos. Em relação ao tipo da alteração cromossômica, 14 casos foram de alterações numéricas e cinco casos de alterações estruturais. Infertilidade foi a indicação clínica mais prevalente, totalizando sete pacientes. Dentre os 19 casos neste estudo, dois foram publicados em revistas científicas. O mosaicismo cromossômico pode apresentar linhagens de células com porcentagens muito variadas. Para uma maior segurança, sugere-se a contagem de um número maior de células para aumentar a chance de identificação destas alterações.

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Double Aneuploidy in Down Syndrome

Cited by 5 publications

References 50 publications

A Rare Case of a Male Infant with Down-Turner Syndrome and Review of Cases

A Rare Case of a Male Infant with Down-Turner Syndrome and Review of Cases

A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin

Prevalencia de mosaicismos cromosómicos en 2.500 estudios citogenéticos realizados en un laboratorio de genética en el Estado de Rio de Janeiro, Brasil

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