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What Is Mosaic Down Syndrome? Parents Share What Life Is Like
Emma McLean is a 6-year-old girl who loves Taylor Swift, reading books, playing the drums and hanging with her little sister. While Emma has Down syndrome — specifically a rare type called Mosaic Down syndrome — some people don't believe it.
"At the hospital, doctors and nurses kept saying, 'She doesn't look like she has Down syndrome,'" Melissa McLean, 39, who is Emma's mother, tells TODAY.Com. "I've heard other comments like, 'Are you sure she has it?'"
Yes, McLean is sure — 15 weeks into her pregnancy, McLean had a blood test to determine whether her baby had any genetic abnormalities. McLean and her husband learned there was a 90% chance their daughter would have Down syndrome, a diagnosis she says they embraced with a "Whatever happens, happens" attitude.
Emma was diagnosed with Down syndrome 24 hours after she was born, however the McLeans had never heard of Mosaic Down syndrome, until doctors confirmed it when Emma was 2 months old.
What is Mosaic Down syndrome?Down Syndrome is a genetic condition in which a person is born with an extra copy of chromosome 21, according to the Cleveland Clinic. Whereas people are usually born with 46 chromosomes, those with Down Syndrome have 47.
There are three types of Down syndrome.
Although Down syndrome is a genetic condition, it can also occur randomly when the fetus develops. Experts aren't exactly sure why it happens but one risk factor is age: People who give birth over 35 are more likely to have a baby with Down syndrome, according to Cleveland Clinic.
People with Down syndrome can share physical characteristics like flatter faces, slanted and upward eyes, a shorter neck and smaller extremities. Also common are developmental delays with walking or talking, cognitive impairment in the areas of social-emotional skills or behavioral issues.
Not everyone with Down syndrome — including those with Mosaic Down syndrome — looks and acts the same.
"The phenotype — which is the 'look' of Down syndrome — could vary," Dr. Mary Wong, a physician at Cleveland Clinic's Children's Center for Down Syndrome, tells TODAY.Com. "It's very possible that an individual with Mosaic Down syndrome's phenotypic features could be less pronounced."
Wongs adds, "For example, I have a patient with Mosaic who is one of triplets. Out of the three kids, (my patient) is the tallest and heaviest, even though Down syndrome kids are usually the shortest, compared to the general population."
People with Mosaic Down syndrome can share the cognitive and physical challenges as those with Trisomy 21 and Translocation Down syndrome. "There's a wide range of abilities," says Wong.
Emma didn't walk until she was 2-and-a-half and she was minimally verbal until last year, says her mom. While Emma is in a typical school and a general classroom, "She is a little behind her peers developmentally and with her receptive understanding, but she's doing well so far," says McLean, adding that her daughter participates in inclusive cheerleading and baseball programs.
McLean says people have inferred things about her daughter.
"Some people believe that people with Mosaic Down syndrome don't have as many struggles, but that's a slippery slope and would be very hard to generalize," says McLean. An acquaintance once told McLean that Emma has "the best kind of Down syndrome" out there.
"I know people are trying to make you feel better, but it's not necessary," says McLean. "Unless you're the parent of a child with a disability, you might not understand that what you're saying is more damaging than, 'Thanks for educating me.'"
'I grew up thinking I was a typical kid'When 25-year-old Ashley Zambelli learned she had Mosaic Down syndrome in 2023, her parents were "shocked" — despite Zambelli having conceived three children with Trisomy 21.
"My dad laughed and said, 'No way!'" Zambelli, a stay-at-home mom of four, tells TODAY.Com.
It was also news to Zambelli, as Down syndrome is often diagnosed during pregnancy or shortly after birth.
Reflecting on her childhood in a TikTok video, Zambelli noted early indicators of her diagnosis: She had low muscle tone in particular areas of her body, loose ligaments and a habit of sitting in a "W" shape, when a person sits on their bottom with their knees in front and their legs splayed behind them.
According to Wong, people with Down syndrome may sit in a "W" position due to hypotonia (low muscle tone), and it's an easier way to prop up their bodies.
Zambelli says she did struggle academically in high school and later dropped out of college, though, "My cognitive impairment was not obvious or strong enough for someone to see and diagnosis it ... I grew up thinking I was a typical kid."
She suspects her condition went unnoticed largely because, "I don't have any of the phenotypes associated with Down syndrome," she says. "I always knew something was different with me as a child because of the medical stuff — my parents took me to doctors ... And the best doctors could come up with was maybe I had lupus ... Without having the phenotype, doctors hadn't even thought to order genetic testing."
Zambelli later conceived three children with Trisomy 21: Her daughters Lillian, 4, and Katherine, 1, and a baby boy she miscarried in 2019. Zambelli's other two children, Evelyn, 3 and Damian, 11 months, do not have Down Syndrome.
While pregnant with Katherine (who tested positive for Down syndrome in utero), Zambelli's OB/GYN encouraged her to undergo genetic testing herself. "She hadn't ever had a patient with three confirmed cases of Down syndrome during pregnancy," she says.
Zambelli's blood tests were negative for Down syndrome and other genetic abnormalities — but a buccal smear test of her cheek revealed Mosaic Down syndrome in 3% of her cells, which does not reflect the totality of mosaicism in her body.
"I do not have any Trisomy 21 in my blood cells, only in my tissue cells," says Zambelli.
Wong explains: "If the blood test (karyotype) is negative and there is a strong clinical suspicion ... Then genetics will do additional testing."
According to Zambelli, she doesn't have any cognitive issues that "meet medical standards" but she struggles with reading comprehension and problems with her joints, ligaments and heart, like others with Down syndrome.
Parenting with Mosaic Down syndromeZambelli says having Mosaic Down syndrome makes her a more sensitive parent to her two diagnosed children.
"I know how to help and guide my kids, especially my 4-year-old, who is getting older and interacting with other kids," she says.
Zamebelli says she has wavering emotions about her adult diagnosis.
"I'm glad I was diagnosed later in life because I was able to grow up without any stigmatizing, but sometimes I wish it was diagnosed early ... Because I may have done better in school if I had more resources," she says. "Medically, I may have been in a better spot than I am today."
As for parenting a daughter with Mosaic Down syndrome, McLean loves her in all her individuality.
"We were told that Emma would probably never walk or talk and that does happen for some people — but it's not everyone," she says. "There are so many beautiful parts of life that we can experience now because of Emma."
McLean adds, "If we didn't have a child with a disability, we would be different people ... Emma has changed everybody."
Rep. Nancy Mace Is Wrong. Not All People Are Born With Either XX Or XY Chromosomes.
We often hear the expression that there are two kinds of people in this world.
But that doesn't always apply when it comes to categorizing people by their sex chromosomes.
"You either have XX or XY chromosomes," Rep. Nancy Mace, R-S.C., wrote Feb. 20 on X. "Those are the options."
Most commonly, a person is born with two X chromosomes (female) or an X and a Y (male). But this is not always the case.
Mace's claim ignores the existence of several medical conditions, some first observed by scientists as far back as the 1930s. Genetic testing in the 1950s enabled scientists to link these conditions to various chromosomal abnormalities in which people's sex chromosomes are neither XX nor XY.
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Mace's office did not respond to a request for comment before publication. After publication, her office wrote in a Feb. 21 email, "Barring chromosomal abnormalities, a person with a typical number of chromosomes — known as a euploid — has either XX or XY which determines biological sex."
About 1.7% of the worldwide population has intersex conditions or differences in sex development — cases in which someone's anatomy does not fit into male or female — according to a commonly cited review of medical literature published in 2000 by Brown University biologist Anne Fausto-Sterling.
The conditions include:
Klinefelter Syndrome (XXY): People with this condition, first identified in 1942, have an extra X chromosome. People with this syndrome are typically assigned male at birth; the condition can result in infertility, low testosterone and undescended testicles. It occurs in about 1 in 600 males.
Turner Syndrome (missing or partial X): First identified in 1938, this syndrome occurs when a female is missing part of the X chromosome pair. This can cause short stature, delayed puberty, low sex hormones and possible infertility.
Triple X Syndrome (XXX): The symptoms of this syndrome, also called trisomy X, can vary from mild — tall height — to more severe, including developmental delays. The condition, present in about 1 in 1,000 females, was first identified in 1959.
Jacob's Syndrome (XYY): A relatively rare condition with mild symptoms, males with this syndrome are born with an extra Y chromosome. It occurs in about 1 in 1000 males and was identified in the 1960s.
According to a factsheet released by the American Society for Reproductive Medicine, chromosomal variations "occur in an estimated 1 in 1,500 to 1 in 2,000 live births, which amounts to approximately 200,000 to 330,000 Americans based on the current population."
There are also intersex conditions that do not involve chromosomes because a person's "sex," according to scientists, is not easily measured by one factor. Chromosomes, gonads, hormones and genitalia can all contribute to a person's sex categorization.
People born with de la Chapelle syndrome have XX chromosomes but can develop a penis, because a gene typically found on the Y chromosome gets moved to a new position on the X chromosome.
People with androgen insensitivity syndrome have male chromosomes, but don't respond to their body's naturally produced male hormones, ranging from mild to complete insensitivity. In cases of complete insensitivity, genetically male fetuses (XY), with internal testes and normal testosterone production could develop vaginas and be assigned female at birth. Partial and mild insensitivity can result in more ambiguous sex characteristics.
Other conditions also result in ambiguous genitalia that do not fall neatly into a male or female sex category.
"A lot of other variations might be noticeable at birth if they cause other types of genital differences," Sylvan Fraser Anthony, legal and policy director at Interact, a nonprofit advocating for intersex youth, told PolitiFact. "Others will be discovered, you know, not until later."
Our ruling
Mace wrote on X, "You either have XX or XY chromosomes. Those are the options."
Although most people are born with either XX or XY chromosomes, science dating back decades shows some people are born with other chromosomal variations.
We rate this claim False.
UPDATE, Feb. 21, 2025: This fact-check has been updated to include a post-publication comment from Mace's office.
X Y Chromosomes
In the imprinted brain theory, everyone's brain is configured somewhere on a spectrum between hypomentalism and hypermentalism. In hypomentalism, the mechanistic, paternal genes are over-expressed, creating a baby with a larger head who demands more from the mother; this child is more likely to have autism. In hypermentalism, the mentalistic, maternal genes are over-expressed; the baby is likely to have a smaller head, demand less from the mother, and develop psychosis. The normal brain falls somewhere between the two extremes, ensuring that the child exhibits neither autism nor psychosis.
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