what is double trisomy

Double Trisomy Double trisomy 48, XXY, +21 or Down-Klinefelter syndrome is a rare occurrence and presents clinical manifestation of trisomy 21 in early life and of Klinefelter syndrome after 10 months of age. The phenotypic and karyotyping characteristics of a 2-month-old boy were reported.

Full Answer

What is the difference between double trisomy and Tetrasomy?

Trisomy - the gain of an extra copy of a chromosome; individuals are called trisomics and their chromosomal composition is 2N+1. Tetrasomic - the gain of an extra pair of homologous chromosomes; individuals are called tetrasomics and their chromosomal composition is 2N+2.

Can someone have two trisomies?

Unlike double aneuploidy, there is a paucity of data on multiple aneuploidies in SABs; two cases with multiple trisomies were reported in the literature.

What does trisomy mean?

The term trisomy describes the presence of three chromosomes instead of the usual pair of chromosomes. For example, trisomy 21, or Down syndrome, occurs when a baby has three #21 chromosomes. Other examples are trisomy 18 and trisomy 13, fatal genetic birth disorders.

What is double trisomy class 12?

A diploid cell with an extra chromosome is trisomic (2n+1), a diploid cell with two different chromosomes in triplicate is called as double trisomy (2n+1+1).

What is the most fatal trisomy?

The cells of these babies have three copies of chromosome 18 instead of the usual two. There is no cure. Most babies with trisomy 18 die before they are born. The majority of those who make it to term die within five to 15 days, usually due to severe heart and lung defects.

Which trisomy is most severe?

Description. Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.

How long can you live with trisomy?

Half of babies born with Trisomy 13 live longer than two weeks and fewer than 10% will survive the first year of life. Approximately 13% survive until 10 years of age.

What is the most common cause of trisomy?

The addition of an extra chromosome usually occurs spontaneously during conception. The cause of this is unknown and prevention is not possible. The most important risk factor for trisomy conditions is maternal age. Women in their late 30s and 40s have a higher chance of trisomy conditions occurring.

Can trisomy be treated?

Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives.

Can you live with trisomy 12?

Trisomy 12 is the second most frequent aberration detected by fluorescence in situ hybridization at the time of diagnosis (10–25%), and it confers an intermediate prognostic risk, with a median time to first treatment of 33 months and a median overall survival of 114 months.

Is Down syndrome XXY?

Half the chromosomes come from the egg (the mother) and half come from the sperm (the father). This XY chromosome pair includes the X chromosome from the egg and the Y chromosome from the sperm. In Down syndrome, there is an additional copy of chromosome 21, resulting in three copies instead of the normal two copies.

Is trisomy 2 inherited?

Trisomy 2 mosaicism is not inherited. It is caused by a random error in cell division during early development of the embryo.

How many trisomies are possible in humans?

There are three types of Down syndrome. The most common is Standard Trisomy 21, in which the father's sperm or the mother's egg cell contains the extra chromosome. In Mosaic Down syndrome, the extra chromosome spontaneously appears as the embryo develops.

What are the chances of having two trisomy 18 babies?

The risk of having a second Trisomy 18 pregnancy is estimated to be around 1%. Also, a woman's chances for a trisomy pregnancy mostly depend on her age. For example, a 25 year old mother has around a 1 in 10,000 chance of having a Trisomy 18 pregnancy. At 45 years old, that risk goes up to 50 in 10,000.

What are the chances of having trisomy 21 twice?

History. If you have one child with Down syndrome, (trisomy 21 or translocation), your chance of having a second child with the condition is about 1%.

What are the chances of having trisomy 13 twice?

Trisomy 13 occurs in 1 of 10,000-16,000 births and the incidence increases with increased maternal age. The risk of recurrence in future pregnancies is 1%. Most cases are not inherited and result from random formation of eggs and sperm in healthy parents.

How many cases of double trisomy?

Total number of cases: 178. The total number of cases with double trisomy is 178 (number of reports of each combination is given in the grid). x - and y -axes represent chromosome number.

How to detect trisomy?

Trisomy can be detected by amplifying highly polymorphic regions of the DNA specific for a chromosome such as short tandem repeats (STR) by QF-PCR ( Adinolfi et al ., 1997 ). Fluorescence-labelled amplification products are shown as different peaks or alleles varying in intensity (peak area) and size (in base pairs) after capillary electrophoresis in a Genetic Analyzer. As the amount of DNA produced is proportional to the quantity of the initial target, trisomy can be presented either in a triallelic form with relative peak area doses near to 1:1:1 or as a diallelic form (2:1) (Figure 1 ). An average of five highly polymorphic STR markers specific for each chromosome involved in the aneuploidy were analysed by QF-PCR in both parental and miscarriage DNA samples when possible. Parental origin and cell stage of error of the aneuploidy can be inferred by comparing the inherited alleles and their relative doses. Pericentromeric markers were preferentially employed. Although pericentromeric markers are in some cases by themselves inefficient for determining meiotic stage of error, the efficiency can be considerably increased if parental origin is known with certainty ( Chakravarti, 1989 ). Parental origin was established when at least two different markers studied for each chromosome were informative ( Robinson et al ., 1999 ). Meiotic origin of the aneuploidy was ensured when three distinct alleles were amplified in the abortion DNA sample. The meiotic division error could be inferred as meiosis I (MI) or meiosis II (MII) on the basis of non-reduction/reduction to homozygosity at the pericentromeric STR markers (Figure 1) ( Chakravarti and Slaugenhaupt, 1987 ). On the other hand, a mitotic (post-zygotic) non-disjunction origin of trisomy is presumed when a trisomic diallelic pattern exists for chromosome-specific STR markers and the lack of observed recombination along the entire chromosome. Nonetheless, definitive proof of a somatic origin is impossible to establish because recombination events can cause large regions of a chromosome to be reduced to homozygosity even in a meiotic error ( Robinson et al., 1999 ). STR markers were separately PCR-amplified as previously described ( Diego-Alvarez et al ., 2005 ). Briefly, PCR assays were carried out in a total volume of 15 µl containing 40–100 µg of genomic DNA, 125 µmol/l dNTP (Invitrogen Corporation, USA), 10 pmol of each primer, 1×Taq polymerase buffer (15 mmol/l MgCl 2) and 0.6 IU of AmpliTaq Gold polymerase (Applied Biosystems, Foster City, CA, USA). After denaturation at 95°C for 12 min, hot-start PCR was performed in a GeneAmp PCR System 2700 (Applied Biosystems) for 10 cycles at 94°C for 30 s, 55°C for 30 s and 72°C for 90 s, and 15 cycles at 89°C for 30 s, 55°C for 30 s and 72°C for 90 s, with a final extension time of 30 min at 72°C. One microlitre of fluorescence-labelled PCR product was mixed with 12 µl of deionized formamide and 0.5 µl of 400HD Size Standard (Applied Biosystems). Mixed samples were electrophoresed in an ABI Prism 3100 Genetic Analyzer and analysed with the GeneMapper 3.5 software package (Applied Biosystems).

How many miscarriages were karyotyping?

Karyotyping was attempted on 517 miscarriages, being successful in 321 of them. The rest (196) either failed to grow in culture or were infected. One hundred and twenty-nine out of 321 karyotypes (40.2%) were chromosomally abnormal. Complete single trisomy accounted for 61.24% of abnormal karyotypes, this frequency being similar to that from previous reports ( Hassold and Jacobs, 1984; Robinson et al ., 2001; Nagaishi et al ., 2004 ). Seven out of 321 (2.18%) SA studied carried a double trisomy. Table I lists karyotype of the double trisomy abortions, gestational age in weeks, parental ages at the time of miscarriage, pregnancy history of the patient after having the double trisomy abortion and origin of trisomies when determined. Three new double trisomy combinations were found in this study (48,XX+9+21, 48,XY+2+8 and 48,XX+20+22). Mean gestational age was 9.4 ± 2.1 weeks, ranging from 7 to 13 weeks of gestation. Mean maternal and paternal ages were 39.7 ± 3.4 and 43.4 ± 8.7 respectively. Although slightly increased, mean maternal age for double trisomy cases (39.7 ± 3.4) was not significantly different ( P = 0.076) from that for single trisomy cases in our cohort of patients (36.6 ± 4.3; n = 66). Mosaicism and triple aneuploidy could be discarded in the seven cases as a large number of metaphases could be analysed. Parental karyotypes were only studied for case 6, resulting in apparently normal 46,XX and 46,XY respectively, at a resolution level of 550 bands.

What is the most common chromosomal abnormality observed in first trimester spontaneous abortions?

BACKGROUND: Although single trisomy is the most common chromosomal abnormality observed within first trimester spontaneous abortions (SA) (>50%), double trisomy (DT) ranges from 0.21 to 2.8% in the literature. Since little is known about mechanisms underlying DT, we report the results of our experience with 517 SA, establishing parental origin and cell stage of non-disjunction when possible in DT cases, and making a revision of those previously reported. METHODS: Cytogenetic analysis was performed in all aborted specimens. Quantitative fluorescent PCR (QF-PCR) and multiplex ligation-dependent probe amplification (MLPA) were performed in DT cases in order to assess parental origin and stage of error of aneuploidy in addition to its reliability in detecting aneuploidies. RESULTS: Karyotyping was successful in 321 miscarriages; the rate of DT was 2.18%. Among the seven DT cases reported, three new combinations were found. Maternal origin was established for all DT SA analysed. Meiotic stage of error was presumed meiosis I (MI) for 48,XX+15+22 and 48,XX+8+21, meiosis II (MII) for 48,XXX+18, and MII and MI respectively for 48,XY+18+22. Molecular results agreed with cytogenetic results. CONCLUSIONS: Similar maternal age-related mechanisms could be implicated in both single and double trisomy. Molecular techniques could be useful in diagnosing not only single but multiple aneuploidy and determining its origin. This will improve our knowledge about mechanisms underlying human aneuploidy, and enable appropiate genetic counselling.

Why is a GTG-banded karyotype performed in all the miscarriage samples?

Conventional GTG-banded karyotype was performed in all the miscarriage samples in order to detect a possible chromosomal anomaly. A minimum of 10 metaphases were routinely analysed per specimen. When abnormal metaphases were found, a few more metaphases were counted before concluding a cytogenetic result.

Which chromosomes are missegregated?

Several chromosome-specific patterns for missegregation have been studied, such as those for autosomal trisomies involving chromosomes 8, 13–16, 18, 21 and 22 ( Robinson et al ., 1993; Zaragoza et al ., 1994; Nicolaidis and Petersen, 1998 ). Despite the fact that maternal meiosis I non-disjunction seems to be the major cause of the whole single trisomy cases, chromosome-specific patterns do exist and a possible mitotic origin must also be considered.

Is maternal age a risk factor for trisomy?

Advanced maternal age remains the ultimate demonstrated risk factor for trisomic pregnancies ( Hassold and Chiu, 1985 ). It has also been demonstrated that maternal age in double trisomy cases is significantly higher than that for single trisomy cases ( Reddy, 1997; Li et al ., 2005 ). This may mean that errors in meiosis leading to multiple aneuploidy are more prone to occur in oocytes as women age. In fact, the relatively high frequency of double trisomy cases in this study (2.18%) may be a consequence in part of the advanced age of our cohort of patients bearing a double trisomic pregnancy [39.7 ± 3.4 compared to the pooled values of 34.1 ± 5.7 in Reddy’s (1997) study]. The fact that maternal age for double trisomy cases is not significantly different from that for single trisomy cases in our study ( P = 0.076) might be due to the reduced size of the sample.

What is a trisomy?

Trisomy is when three copies of a chromosome are present instead of two (all chromosomes normally come in pairs). While most parents-to-be are familiar with Down syndrome and will undergo prenatal screening to detect it, there are other, potentially more serious trisomies that may occur, including Edwards syndrome, Patau syndrome, and others.

What is the most common autosomal trisomy?

Trisomy 16 is the most common autosomal trisomy seen in miscarriages, accounting for at least 15% of first-trimester pregnancy losses. Full trisomy 16 is incompatible with life. While most fetuses with this abnormality are spontaneously aborted by the 12th week of gestation, a few have survived into the second trimester. 4 

What is the third most common autosomal disorder among newborns after Down syndrome and Edwards syndrome?

Patau syndrome (trisomy 13) is the third most common autosomal disorder among newborns after Down syndrome and Edwards syndrome. Most cases are related to a full trisomy; a very small proportion is caused by translocation or a similar condition known as mosaicism in which the chromosomal building blocks are rearranged. 7 

What happens when a chromosome is split into two identical chromosomes?

Instead of splitting cleanly into the two identical chromosomes, the newly divided chromosome will have extra genetic material. This can lead to either a full trisomy (in which a complete third chromosome is created) or a partial trisomy (in which only part of the chromosome is copied).

What are the abnormalities of mosaic trisomy 16?

With that being said, more than half of babies with mosaic trisomy 16 will have fetal abnormalities, including musculoskeletal defects, distinctive facial features, undersized lungs, and an atrial septal defect (a hole between the upper chambers of the heart).

How long does it take for trisomy 9 to kill?

Trisomy 9 is a rare disorder in which a full trisomy is usually fatal within the first 21 days of life. Newborns with trisomy 9 will have a smaller head, distinctive facial features (including a bulbous nose and sloping forehead), a deformed heart, kidney problems, and often severe muscle and skeletal malformations. 11 

How rare is Edwards syndrome?

Edwards syndrome (trisomy 18) is rare, affecting only one of every 5,000 births. Around 95% of cases are caused by an extra chromosome 18. The remaining 5% of cases are due to an error known as translocation in which the building blocks of one chromosome is inserted into another. 6 .

What is trisomy 13?

trisomy 13 syndrome holoprosencephaly due to an extra chromosome 13, in which central nervous system defects are associated with mental retardation, cleft lip and palate, polydactyly (extra fingers or toes), and dermal pattern anomalies, as well as abnormalities of the heart, viscera, and genitalia. Called also Patau's syndrome.

What is nonmosaic trisomy9?

nonmosaic trisomy9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature.

What is the name of the abnormality that causes a fetus to die?

This anomaly may cause a wide range of structural abnormalities or even early death of the fetus. Trisomy of chromosome 21 (trisomy 21) is the cause of DOWN'S SYNDROME.

What is it called when the number of chromosomes is above or below the normal number?

Disorders of chromosome number in which the number of chromosomes is above or below the normal (46) are called aneuploidy. Common forms of aneuploidy are trisomy in which there is one extra chromosome and monosomy in which there is one less, than the normal 46.

What is the abnormality of chromosomes?

An abnormality in chromosomal development. Chromosomes are the structures within a cell that carry its genetic information. They are organized in pairs. Humans have 23 pairs of chromosomes. In a trisomy syndrome, an extra chromosome is present so that the individual has three of a particular chromosome instead of the normal pair. An extra chromosome 18 (trisomy 18) causes mental retardation.

What is the occurrence of an extra chromosome in one of the 23 matched and identifiable pairs?

The occurrence of an extra chromosome in one of the 23 matched and identifiable pairs so that there are three, instead of two, of a particular chromosome. This anomaly may cause a wide range of structural abnormalities or even early death of the fetus. Trisomy of chromosome 21 (trisomy 21) is the cause of DOWN'S SYNDROME.

What is the state of an individual or cell with an extra chromosome instead of the normal pair of homolog?

tri·so·my. ( trī'sō-mē ), The state of an individual or cell with an extra chromosome instead of the normal pair of homologous chromosomes; in humans, the state of a cell containing 47 normal chromosomes. For various types of trisomy syndrome, see entries under syndrome.

What is the coincidence rate of Klinefelter syndrome and Down syndrome?

3–6 The coincidence rate of both Down and Klinefelter syndromes in the same individual is estimated to be in the range of 0.27 to 0.7 × 10 −5; 2 however, neonatal survey data has revealed that the incidence of XXY and trisomy 21 double trisomy at birth is higher than expected from the incidence of either alone. 7 On the other hand, lower values of XXY pattern recorded in older boys and men with Down syndrome suggest that there might be an increased selection against these individuals after birth. 8

Is fetal trisomy related to maternal age?

As the incidence of fetal trisomies is directly related to maternal age factors rather than genetic predisposition, such factors may play a more important role in the etiology of the most common double aneuploidy 48,XXY,+21, as evident in the present case (mother’s age is 43 years). 11, 20 The risk of having a child with Down syndrome increases in a gradual, linear fashion until about age 30 and increases exponentially thereafter ( Figure 3 ). 21

Is XXY chromosome pattern more frequent than predicted?

Studies on the incidence of an XXY chromosome pattern among Down syndrome individuals have revealed that this double aneuploidy might be more frequent than predicted by multiplying the frequencies of the individual aneuploidies. 9 Several cases of double aneuploidy of XXY and trisomy 21 have been published since the first report by Ford and colleagues. 10

How long does trisomy 13 last?

Trisomy 13 involves multiple abnormalities, many of which are life-threatening. More than 80% of children with trisomy 13 do not survive past the first month of life. For those that do survive, complications may include:[3]

What is the trisomy 13?

Trisomy 13 is associated with severe intellectual disability and physical abnormalities in many parts of the body. People with this condition often have congenital heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers and/or toes ( polydactyly ), cleft lip or palate, and decreased muscle tone ( hypotonia ). [2] Many infants with trisomy 13 fail to grow and gain weight at the expected rate ( failure to thrive ); have severe feeding difficulties; and may stop breathing for short periods of time (apnea). [1]

What is the name of the extra chromosome 13?

In other rare cases, a person has an extra copy of chromosome 13 in only some of the body's cells; this is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and proportion of cells that have the extra chromosome. [5] [6] Last updated: 12/22/2020.

How much risk of having a baby with trisomy 13?

For a woman who has had a previous child with trisomy 13, the recurrence risk is generally quoted as about 1% or the maternal age-related risk - whichever is higher at the time of pregnancy.

What happens when chromosome 13 is transferred to another chromosome?

The extra genetic material disrupts the normal course of development, causing the characteristic features seen in trisomy 13. Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of eggs or sperm, or very early in fetal development.

How many children with trisomy 13 survive?

Trisomy 13 involves multiple abnormalities, many of which are life-threatening. More than 80% of children with trisomy 13 do not survive past the first month of life. For those that do survive, complications may include: [3] Breathing difficulty or lack of breathing (apnea) Deafness.

How is trisomy 13 diagnosed?

Trisomy 13 is diagnosed based on the symptoms, clinical exam, and confirmed by the results of a chromosome test. Due to various life-threatening medical problems, many infants with trisomy 13 do not survive past the first days or weeks of life. [2] Last updated: 12/22/2020.

How many chromosomes are in triple X syndrome?

Females normally have two X chromosomes in all cells — one X chromosome from each parent. In triple X syndrome, a female has three X chromosomes.

Why is triple X syndrome called 47,XXX syndrome?

Triple X syndrome is also called 47,XXX syndrome because the extra X chromosome results in 47 chromosomes in each cell instead of the usual 46.

Why is triple X syndrome not inherited?

Causes. Although triple X syndrome is genetic, it's usually not inherited — it's due to a random genetic error. Normally, people have 46 chromosomes in each cell, organized into 23 pairs, including two sex chromosomes. One set of chromosomes is from the mother and the other set is from the father. These chromosomes contain genes, which carry ...

What is mosaic chromosome?

Mosaic. Occasionally, the extra chromosome results from an incorrect cell division caused by a random event early in the embryo's development. If this is the case, the child has a mosaic form of triple X syndrome, and only some cells have the extra X chromosome. Females with the mosaic form may have less obvious symptoms.

What does XY mean in genetics?

If the child receives a Y chromosome from the father, the XY pair means the child is genetically a male.

What is it called when a cell divides incorrectly?

Nondisjunction. In most cases, either the mother's egg cell or the father's sperm cell divides incorrectly, resulting in an extra X chromosome in the child. This random error is called nondisjunction, and all the cells in the child's body will have the extra X chromosome.

What are the symptoms of triple X syndrome?

Signs and symptoms in girls and women with triple X syndrome may include an increased risk of: Delayed development of speech and language skills, as well as motor skills, such as sitting up and walking. Learning disabilities, such as difficulty with reading (dyslexia), understanding or math.

Introduction

• Although single trisomy is the most common chromosomal abnormality observed within first trimester spontaneous miscarriages (>50%) (Hassold et al., 1980; Nagaishi et al., 2004), double trisomy ranges from 0.21 to 2.8% among karyotyped spontaneous abortions (SA) in the literature (Carr, 1967; Creasy et al., 1976; Lauritsen, 1976; Takahara et al., 19...

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Materials and Methods

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Signs and symptoms

Overview

• Klinefelter syndrome, also known as XXY syndrome, is a condition affecting males caused by an additional X chromosome. Men with Klinefelter syndrome typically produce little testosterone, resulting in reduced muscle mass, facial hair, and body hair. Characteristic symptoms include small testicles, delayed development, breast enlargement (gynecomast...

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Treatment