Genes are grouped into larger structures within the cells called chromosomes. The DNA sequence of human chromosome 21. The real draw of NIPT is its potential as an alternative to invasive testing, a way to replace a needle in the belly with one in the arm, to get information without putting pregnancies in harm's way. Thank you guys. hbbd```b``"aDl@$K8|& DrH|9! It is another devil's bargain -- and another I am glad to avoid. Clinical diagnosis should be confirmed by genetic testing (typically, karyotype from infants blood or tissue). theft being redefined as a "c By entering your email and clicking Sign Up, you're agreeing to let us send you customized marketing messages about us and our advertising partners. Mayo Clinic does not endorse companies or products. information is beneficial, we may combine your email and website usage information with I was still, if barely, in my regular jeans, nobody knew anything. for research into Down syndrome. However, if you have any questions regarding your pregnancy or your child's growth and development, talk with your doctor. Am J Hum Genet. In Down syndrome, there is an additional copy of chromosome 21, resulting in three copies instead of the normal two copies. Down syndrome: Clinical features and diagnosis. These cookies allow us to count visits and traffic sources so we can measure and improve the performance of our site. Philadelphia, Pa.: Saunders Elsevier; 2017. *kj6],ZpIZ miP= z,Uzb9(Jga"YfIbdbd4it.2N582 .Cqcqxg}y#+,z m;S$. Eunice Kennedy Shriver National Institute of Child Health and Human Development. Clinical correlation is suggested. Two copies of chromosome 21, one copy inherited from each parent, form one of the pairs. Down syndrome results when abnormal cell division involving chromosome 21 occurs. MaternIT 21. This educational content is not medical or diagnostic advice. In a very small percentage of cases, Down syndrome results from an extra copy of chromosome 21 in only some of the body's cells. 2001 Sep 10;20(40):5660-79. doi: 10.1038/sj.onc.1204593. Antonarakis SE, Lyle R, Deutsch S, Reymond A. Chromosome 21: a small land of a`a`07eb@ !V68s" One chromosome in each pair comes from your father, the other from your mother. Down syndrome. This specimen also showed an expected representation of chromosomes 18 and 13 material. JZfXv6C8{?haO~s7wxW~gzw If you are a Mayo Clinic patient, this could In fact, chromo - . How is the dna in a prokaryote different from the dna in a eykaryote . suggested. What does this mean? 2001 Jun;11(3):241-6. doi: 10.1016/s0959-437x(00)00185-4. In these people, the condition is called mosaic Down syndrome. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. This baby took 7 years to conceive with a lot of surgeries, appointments and medication. doi: A negative/normal result puts you at a lower risk than your age related risk. FAQ164. A single copy of these materials may be reprinted for noncommercial personal use only. So Im confused ! Trisomy 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. Translocation Down syndrome can be passed from parent to child. Facts about Down syndrome. This type of genetic change, called a somatic mutation, is not inherited. Categories: . I received my results from my NIPT and it showed negative for each chromosome 21, 18, 13 - but then it said This specimen showed an expected representation of, chromosome 21, 18 and 13 material. Trisomy is a genetic condition where a chromosome has three copies instead of the normal two. Sign up for free, and stay up to date on research advancements, health tips and current health topics, like COVID-19, plus expertise on managing health. endstream endobj 16 0 obj <> endobj 17 0 obj <>/Font<>/ProcSet[/PDF/Text/ImageC]/XObject<>>>/Rotate 0/TrimBox[0 0 612 792]/Type/Page>> endobj 18 0 obj <>stream 2007 Sep;81(3):475-91. When I asked one colleague how NIPT has changed her practice, she answered "two things: less angst, and fewer invasive tests.". Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Affected individuals with this genetic change are said to have translocation Down syndrome. Translocations of genetic material between chromosome 21 and other chromosomes have been associated with several types of cancer. This specimen showed expected representation of chromosome 21, 18, and 13 material. Chromosome 21: MedlinePlus Genetics Here, we studied male meiotic chromosome behavior in four hybrid . xmTkLW\evagXEE`] Most of the time, Down syndrome isn't inherited. Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii All information these cookies collect is aggregated and therefore anonymous. Lubec G, Engidawork E. The brain in Down syndrome (TRISOMY 21). With non-invasive prenatal testing (NIPT), it is now possible through a single blood sample to determine with accuracy whether a fetus carries the genes for one of three major chromosome abnormalities. 1998-2023 Mayo Foundation for Medical Education and Research (MFMER). No Y chromosome means no boy . Clinical correlation is. Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Genetics plays a role, to a greater or lesser extent, in all diseases. You can specify conditions of storing and accessing cookies in your browser. Chromosome 21 abnormalities can cause intellectual disability, delayed development, and characteristic facial features. o>zo/_77~|g}W_un~x|y?7z|o?{#?w>[ n>WNqS7(YS?? ;ca(0@ \ Trisomy 21, also known as Down syndrome, is a condition characterized by a distinctive pattern of minor and major anomalies associated with excess chromosome 21 material. Some people are healthy while others have significant health problems such as serious heart defects. the most helpful and trustworthy pregnancy and parenting information. A genetic counselor can help you understand your chances of having a child with Down syndrome. Test Result for Chromosomes 21, 18 and 13 Positive for Trisomy 21 This specimen showed an increased amount of chromosome 21 material (trisomy 21), such as may be found in pregnancies with Down syndrome. Create an account or log in to participate. I'll say it again. It means to compare with other data to prove the already gathered data . %%EOF These cell division abnormalities result in an extra partial or full chromosome 21. Negative for the trisomy's and it's a girl! expected representation of chromosome 21, 18 and 13 material No This option is dependent on Family Size and Income Level. Rather, it is false negatives -- getting a normal result when we are carrying an affected child. 3 - 5 days. No 4H|jiP(4 -eqq 2]"1P@*O {`l Vnf3 jxT3p10fg4- ste``?3'"C3\!66xHiXX0p% iF ` d Oct;5(10):725-38. doi: 10.1038/nrg1448. If you're at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant. Most children with Down syndrome have mild to moderate cognitive impairment. I would take this as lab-speak and good news!Negative and baby girl! National Down Syndrome Society. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. My husband and I didn't tell a soul, spent weeks not knowing whether to imagine our fifth, think about how he or she would reshape our lives, our family, our selves. Chromosome Results Chromosome Tested Results Trisomy 21 (T21) Negative Trisomy 18 (T18) Negative Trisomy 13 (T13) Negative Fetal Sex Result Consistent with a female fetus. Sequenom will alert your provider that your test has been canceled. %%EOF Accessed Dec. 16, 2016. 2000;1(2):REVIEWS0002. Contributors control their own work and posted freely to our site. 2005-2023Everyday Health, Inc., a Ziff Davis company. *t~oU*x_7Z|o~wFU|~7VM?|x_rZ&OG5zZ Orydo9of}|N/d*bmB:C.v^y*KIudw#ul1Z;u8[`^Z>i5}\hjJ8N([=rA?/v68F4r0@_&fkzu-6nz1^$oi=KOl[|ff*lg}+[4W}v`/!Yg6UD7l;_sw[B2D FX6? information and will only use or disclose that information as set forth in our notice of Other changes in the number or structure of chromosome 21 have a variety of effects on health and development. It is important to be able to recognize characteristic features of these conditions in order to initiate the most appropriate evaluations. #`L4;d8]][%%tR 21 aneuploidies by fluorescent PCR. Medicaid is accepted with zero patient responsibility and uninsured patients may utilize the Patient Assistance Program. The information on this site should not be used as a substitute for professional medical care or advice. For example, acute lymphoblastic leukemia (a type of blood cancer most often diagnosed in childhood) has been associated with a translocation between chromosomes 12 and 21. Question about nipt results : r/pregnant - reddit.com a2&JO6ISUY4zAu1i^Z4|fl.~X5R"@4)IEWR> Advertising revenue supports our not-for-profit mission. This content does not have an Arabic version. Sometimes it's best to let the doctor review the results with you to avoid worrying. Click here for an email preview. I saw your other post and agree with the others. A ring chromosome occurs when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. how to make a pulley with household items; ping crossover vs hybrid; how old is sandie rinaldo Karyotype is needed for counselling and for estimating recurrence risk (risk in future pregnancies). I'm sure they always recommend speaking with a dr after any result just so you get a good understanding of it. hb```PV eaXAzi{Cz[8KE-PchX% Let us know if you have suggestions to improve this article (requires login). 1997-1998;1(4):301-6. doi: 10.1089/gte.1997.1.301. abstract available. Then, lo and behold, gave birth to a completely normal baby. My worry is always about procedure-related miscarriage -- the small chance that an invasive test (involving a needle in the uterus) could cause the loss of an otherwise healthy child. J Neurol. I only know this stuff because I sat through her presentation for 40 minutes. Learn more about, Twins & Multiples: Your Tentative Time Table. Leuk Res. x+TT(T0 B3C#sK#Tp}\C|@ https://ghr.nlm.nih.gov/condition/down-syndrome. endstream endobj startxref It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders. Primer on Data Quality in Birth Defects Surveillance, 7.1 Why data quality matters; A surveillance scenario, 7.4 General good data strategies and practices, 7.5 Key Characteristics of Data Quality in Public Health Surveillance, 7.6 Quality Data come from Quality Processes, 7.8 Quality and waste in surveillance, Congenital Anomalies of the Nervous System, Congenital Anomalies of the Nervous System: Microcephaly, Congenital Anomalies of the Ear: Microtia/Anotia, Congenital Anomalies of the Digestive System, Oesophageal Atresia/Tracheo-Oesophageal Fistula, Congenital Anomalies of Genital and Urinary Organs, Congenital Anomalies and Deformations of the Musculoskeletal System: Talipes Equinovarus, Longitudinal Preaxial (Tibia, Radius, First Ray), Longitudinal Axial Defects Split Hand and Foot, Longitudinal Postaxial (Fibula, Ulna, Fifth Ray), Chromosomal Abnormalities: Trisomy 21 (Down Syndrome), Congenital anomalies of the nervous system, Congenital anomalies of the digestive system, Congenital anomalies of the genital and urinary organs, Congenital anomalies and deformations of the musculoskeletal system, Birth Defects Surveillance Course Overview, Module 1: Introduction to Congenital Anomalies Surveillance, 1.1 Public Health and Surveillance of Congenital Anomalies, Module 2: Introduction to Planning Activities and Tools, Module 3: Introduction to Surveillance Approaches, 3.8 Description Formats for Congenital Anomalies, Module 4: Introduction to Diagnosis of Selected Congenital Anomalies, 4.1 External Major Congenital Anomalies for Monitoring, 5.1 International Classification of Diseases, 5.3 Personnel Responsible for Diagnosis and Coding, International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), U.S. Department of Health & Human Services, heart defects (in about 50%, most notably endocardial cushion defects), gastrointestinal atresias (duodenal or esophageal atresia), vision and hearing issues (e.g. The risk to have a child with Down syndrome does increase with the mothers age, but mothers of all ages can have a child with Down syndrome and it can occur in people of all races. Sequenom offers MaterniT21 and will process billing with your commercial insurance. Worries we are edging on a brave new world. http://www.uptodate.com/home. Accessed Dec. 16, 2016. Sequenom will alert your provider that your test has been canceled. Oh - y chromosone not detected means no extra Y - so negative on the Trisomys. This condition is most often caused by trisomy 21. Test Result for Y . Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, 7th ed. Corrections? And the rest means all is good! What is Trisomy? Difference Between 21, 18, & 13 | Prenatal Test In: Obstetrics: Normal and Problem Pregnancies. Note, it does not state trisomy anywhere in the report, but to your point it is possible it can mean it is negative for trisomy. Then right after the last is listed it says Interpretation and thats the verbiage I posted. G, Sarret E, Gonzalez-Duarte R. Molecular characterisation of partial chromosome Can changes in the number of chromosomes affect health and development? For the following questions, assume that the frequency of carriers = 0.05. I have not heard from my doctor yet. health information, we will treat all of that information as protected health Postnatal. 119 0 obj <> endobj Make a donation. http://www.uptodate.com/home. Front Biosci (Landmark Ed). Chromosome 21 is the smallest human chromosome, spanning about 48 million base pairs (the building blocks of DNA) and representing 1.5 to 2 percent of the total DNA in cells. chromosome 21, 18 and 13 material negative mean. Trisomy 21, 18, or 13 means there are three copies of that particular chromosome instead of two. http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/. Linguistics Exam #1. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. expected representation of chromosome 21, 18 and 13 material Nobody should do -- or get -- an abortion for a chromosome problem unless the diagnosis is confirmed by invasive testing. (This finding is significant because an abnormality in chromosome 21an extra copyis found in patients with Down syndrome, virtually all of whom develop Alzheimer's disease if they live to age 35.) Starting from the sun, create a food chain including at least three organisms. Use standard operating procedures to decide whether to accept prenatal diagnoses without postnatal confirmation (e.g. Hi everyone!Ive been monitoring this community for nearly 2 years but this is my first post. ;I3 chromosome 21, 18 and 13 material negative mean. Genome Biol. The same investigators estimated that if amniocentesis were used to confirm positive NIPT tests, the number of test-related losses would be reduced to 29. These cookies perform functions like remembering presentation options or choices and, in some cases, delivery of web content that based on self-identified area of interests. 10.2741/3977. R6DX !H2 All rights reserved. 4. Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, The defective gene on chromosome 21 The timing is similar to CVS, but the key difference is that NIPT is physically "non-invasive," meaning blood is taken from a woman's arm. 2002 Causes of autosomal (trisomy 13, 18 and 21) and sex chromosome Review/update the For children who have had the diagnosis made prenatally, a . Accessed Dec. 22, 2016. https://www.acog.org/-/media/For-Patients/faq164.pdf?dmc=1&ts=20161216T1208042192. Semin Med Genet. Interpretation Summary Lab: EZ This specimen showed expected representation of chromosome 21, 18, and 13 material. Your post will be hidden and deleted by moderators. Clinical correlation is required. This extra genetic material causes the developmental changes and physical features of Down syndrome. "It is love that takes courage," the eloquent Forrest Church has offered, "because the people we love most may die before we do." Cookies used to make website functionality more relevant to you. The RUNX1-ETO fusion protein forms CBF and attaches to DNA, but instead of turning on genes that stimulate the development of blood cells, it turns those genes off. That's what makes it a Holy Grail. expected representation of chromosome 21, 18 and 13 material Gardiner K, Costa AC. There are 23 pairs of chromosomes, for a total of 46. With that news, I settled in to the fact that I was going to have a baby, tentativeness pressed firmly aside, heart opening at last. These cookies may also be used for advertising purposes by these third parties. Clinical correlation is suggested. Because they transmit hereditary traits to the DNA of the following generation, they are referred to as the seat of hereditary information. 2. Chromosomal Abnormalities: Trisomy 21 (Down Syndrome) Chromosome 21, which represents about 1 percent of the entire genome, was expected to be gene-poor, but not as impoverished as it now seems. Some parents have a greater risk of having a baby with Down syndrome. This post was published on the now-closed HuffPost Contributor platform. Children and adults with Down syndrome have distinct facial features. What is the main function of a chromosome? Nat Rev Genet. I'm not sure I understand your post.your results were negative for trisomy 21, 18, and 13 or were negative for those chromosomes completely. +P@K ?L)QISG+F The gene on chromosome 21 was the first to be identified. 000aMt= -H3]rn? Mine also shows this but my doctor called and said all was good ? That's what makes it exciting. As a doctor who has run a miscarriage clinic, I've seen how harrowing it can be, especially for women riveted by the fact that but for their "informed choice" to test, they'd still be pregnant. We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. Accessed Dec. 16, 2016. Down Syndrome affects about 1 in every 700 babies. Updates? drinking too much being redefined as "alcoholism" Genetics Home Reference. this specimen showed an expected representation of chromosome 21, 18 and 13 material. In 2000, researchers working on the Human Genome Project announced that they had determined the sequence of base pairs that make up this chromosome. "Mayo," "Mayo Clinic," "MayoClinic.org," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. I know my risks of genetic problems are high (about 1 in 30, given my age). Y Chromosomal material Not detected Pregnancy Data Fetal Fraction 12% Number of Fetuses 1 National Library of Medicine. Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. N2HEaHAK The educational health content on What To Expect is reviewed by our medical review board and team of experts to be up-to-date and in line with the latest evidence-based medical information and accepted health guidelines, including the medically reviewed What to Expect books by Heidi Murkoff. abstract available. Erratum In: Nature With a normal NIPT and a normal second trimester ultrasound, invasive testing to detect the three major trisomies could be called unwarranted, a search for a needle in a haystack at best. 4L:S~FT/S0b k_hO@>N.&!qso|fhW>,%J8z.R`{Aj0jPANQ_dW^R1k%RzG8$ U@v$*^MN>i>bmIQA2/3f=Yj{Wpc/ctm+Vp}p>`NBUox#On.8$j5tVWn(P'*vjv6o{F'@z` *$Y$xJdON VG *lXJnGGQI+Q3id,@JT9TZX' E4_ Use of this site is subject to our terms of use and privacy policy. The chromosomes found in the nucleus of our cells allow for exact DNA duplication during cell division. No Y chromosomal material detected." Clinical correlation is suggested. March is Trisomy Awareness Month. When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. The defective gene on chromosome 21. Prenatal genetic diagnostic tests. }&Cu]t_R]gy||8_9m8t`>(X(\f=OW?;VxEa!y?SY9iCWue E{t$S9`xx*m*)_@O)zmL In some cases, the signs and symptoms are similar to those of Down syndrome. Children with Down syndrome usually are diagnosed before or at birth. Trisomy 21 can be strongly suspected or diagnosed clinically during the neonatal period by recognizing the typical physical traits. It's the most common genetic chromosomal disorder and cause of learning disabilities in children. Trisomy 21, also known as Down syndrome, is a condition characterized by a distinctive pattern of minor and major anomalies associated with excess chromosome 21 material. Ostermaier KK. Which of the following illustrates the "medicalization of deviance"? Fig. Panorama and harmomy blood tests are good but not 100% because they rely on the fetal blood available in the mother's blood there are documented cases where placenta and fetus do not share the se DNA, the NIPT tests cant tell placenta DNA from fetal DNA, so the test will likely always say clinical correlation is suggested. \>Oz?v.yz)i[{SUpo9iGtNqX.jN^o>_;zwf'oq7sP\; Explain how energy is transferred through t I assume it is the trisomy. Then right after the last is listed it says "Interpretation" and that's the verbiage I posted. Chromosome 21 - an overview | ScienceDirect Topics Extremities short broad hands, fifth finger clinodactyly, fifth finger single flexion crease, single palmar crease, wide gap between first and second toe. Other articles where chromosome 21 is discussed: human disease: Alzheimer's disease: The gene on chromosome 21 was the first to be identified. =l.{v#[}pC=jzWC=9D6c:9QMKI8$J,98|:>_qG^QK{L7?O?NnpPiuSwTp]BwA@ Xj2fc5z5sRb3'D[OI~VhR,XZx}`MtY9IF$fw2K5-je/rV ]]m92j'xW(6Bed8Wl:oh4MY\XE[(3U"ysi-kO{$4l}_g dLR4y$909vY}dAzO|2s6#8VlJK=@Ck5$Jgfil&KVy{gFE" (jnzyp\t8wFM3Qt[lMV.)t`IrErz1t;]fO>f>Vi^c=/f3Gc3-m(kc=z_6Ygm"Z|77e_a7s`1 We take your privacy seriously. expected representation of chromosome 21, 18 and 13 material 2000 Sep 7;407(6800):110. A genetic rearrangement (translocation) involving chromosome 21 is associated with a type of blood cancer known as core binding factor acute myeloid leukemia (CBF-AML). These complications can include: For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle. Down syndrome - Symptoms and causes - Mayo Clinic - Mayo Clinic Be sure to include at least five specific places that the carbon atom can be found as it makes its cycle. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. Head and neck brachycephaly, large anterior fontanelle, short neck, excess nuchal skin, protruding tongue, narrow palate, flat nasal bridge, upslanting palpebral fissures, epicanthal folds, nystagmus, Brushfield spots on iris, small ears (<3 cm), overfolded helix (ear). Group Black's collective includes Essence, The Shade Room and Naturally Curly. Something that gives us courage. the unsubscribe link in the e-mail. doi: 10.1086/520000. This option is dependent on Family Size and Income Level. I Le\yfGd8DefPIxmrbhMnI}!3ED*yJ4WXVg Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental . The translocation, written as t(8;21), fuses part of the RUNX1 gene from chromosome 21 with part of the RUNX1T1 gene (also known as ETO) from chromosome 8. Nature. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. fascinating disorders with unknown pathophysiology. Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Chromosome 21 clinical correlation is suggested. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. clinical correlation is suggested. The role of the family physician in the care of children with Down syndrome. Rates of trisomies 21, 18, 13 and other chromosome - PubMed endstream endobj 120 0 obj <> endobj 121 0 obj <> endobj 122 0 obj <>stream I would probably have done the same as you and try to analyze it, I think this is "lab speak" for your results. 1 See answer Advertisement HafsaM This specimen showed a normal portrayal of chromosome 21, 18, and 13 material. (This finding is significant because an abnormality in chromosome 21an extra copyis found in patients with Down syndrome, virtually all of whom develop Alzheimers disease if they live to age 35.) other information we have about you. 10.1016/s0145-2126(03)00160-7. Valero R, Marfany G, Gil-Benso R, Ibanez MA, Lopez-Pajares I, Prieto F, Rullan This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts. Bunt CW, et al. 10.1186/gb-2000-1-2-reviews0002. I havent heard from my doctor yetbut now Im spinning! Accessed Dec. 16, 2016. I Found the 'Holy Grail' of Prenatal Testing | HuffPost Life If karyotype not available, check clinical signs on which diagnosis was based. Part of HuffPost Wellness. Int J Dev Biol. Affected people have two copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. expected representation of chromosome 21, 18 and 13 material. National Human Genome Research Institute: Chromosome Abnormalities. K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Mayo Clinic, Rochester, Minn. Jan. 26, 2017. . As my colleague (and my obstetrician) Diana offered candidly, "You know, Annie, this the Holy Grail. Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, according to LabCorp it says Chromosome 21 - Negative, Chromosome 18 - Negative, and Chromosome 13 - Negative. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children.
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