近期，四川一位怀孕25周的准妈妈在产检中发现胎儿被诊断为嵌合体超雄综合征（47，XYY综合征）。这一消息迅速引发社会广泛关注与热议。有传言称，“超雄染色体”的孩子天生是“坏种”，带有“恶魔基因”，引发对于胎儿去留的争议。然而，北京大学人民医院妇产科副研究员、产前诊断中心遗传实验室的张璘博士，以科学、客观的角度对超雄综合征及其相关遗传风险进行了深入解读，为公众提供了正确的认知。
超雄综合征，又称47，XYY综合征，是一种仅影响男性的染色体病。在正常情况下，人类的染色体数目为46条，包括22对常染色体和1对性染色体（XX或XY）。超雄综合征的患者在男性新生儿中发病率约为1:1000，其特征在于额外拥有一条Y染色体，使得染色体数目达到47条，性染色体为XYY。
值得注意的是，除了超雄综合征外，还存在超雌综合征，即47，XXX综合征。该综合征通常在女性中出现，涉及至少三条性染色体，对生育能力有一定影响，可能导致月经周期异常和生育问题。此外，患者卵子的异常可能增加子代性染色体异常的风险，进而影响生育。
针对超雄综合征患者的智力和体格发育，研究显示大多数患者的智力水平处于正常范围或轻微下降状态，身高通常高于平均值。在语言、神经运动技能、学习能力等方面，患者可能面临发育迟缓的风险，但这些问题并非超雄综合征所特有，且可以通过适当的干预措施得到改善。
在遗传学方面，正常的夫妻生下超雄综合征的孩子，通常是由于父亲在减数分裂II期中产生额外的Y染色体所致。如果父亲本身为超雄综合征患者，则存在生育超雄综合征或克氏综合征患儿的可能性。然而，生育这类患儿的发生概率相对较低。
关于“嵌合型”超雄综合征的说法，实际上并非意味着“超雄宝宝‘吃’了另一个宝宝”。嵌合体是指一个个体由两种或多种具有不同核型的细胞系组成的状况。在超雄综合征的嵌合型中，不同核型的细胞系通常起源于同一个合子，即受精卵。这种状况的形成可能与早期胚胎发育过程中的细胞分裂异常有关，而非来源于“吃”了另一个宝宝。
综上所述，超雄综合征并非遗传自“恶魔基因”，而是一种常见的染色体变异。科学认知这一疾病，避免妖魔化，对于维护公众健康和社会和谐至关重要。张璘博士的解读为公众提供了正确信息，呼吁社会各界基于科学知识进行讨论，避免不必要的恐慌与误解。
英语如下：
Headline: “Scientific Insight: Supermale Babies Are Not Demons, Intelligence Development Impact Limited”
Keywords: Hyper-masculinity Syndrome, Chimaeric, Genetic Risk
News Content: Headline: A Pregnant Woman in Sichuan Discovers Fetal “Supermale” Syndrome During Antenatal Checkup, Expert Interpretation: Scientific Awareness, Avoiding Demonization
Recently, a pregnant woman who is 25 weeks into her pregnancy in Sichuan discovered that her fetus has the Hyper-masculinity Syndrome (47, XYY Syndrome) during an antenatal checkup. This news sparked widespread public concern and debate. Rumors have spread that children with the “supermale” chromosome are inherently “bad” and carry “demonic genes,” leading to debates over the fetus’s fate. However, Dr. Zhang Lin, a deputy researcher at the Obstetrics and Gynecology Department of Beijing University People’s Hospital and a geneticist at the Pre-natal Diagnosis Center’s Genetic Laboratory, provided in-depth scientific and objective interpretations of the Hyper-masculinity Syndrome and related genetic risks, offering the public the correct understanding.
The Hyper-masculinity Syndrome, also known as the 47, XYY Syndrome, is a chromosomal disorder that only affects males. Normally, humans have 46 chromosomes, including 22 pairs of autosomes and one pair of sex chromosomes (XX or XY). The incidence of the Hyper-masculinity Syndrome in newborn males is approximately 1 in 1000, characterized by an additional Y chromosome, resulting in a total of 47 chromosomes and sex chromosomes as XYY.
Notably, there is also the Hyper-femininity Syndrome, or the 47,XXX Syndrome, which typically occurs in females and involves at least three sex chromosomes, affecting fertility and potentially leading to menstrual cycle irregularities and reproductive issues. The abnormality in the patient’s eggs may increase the risk of chromosomal abnormalities in offspring, thereby impacting fertility.
Regarding the intellectual and physical development of Hyper-masculinity Syndrome patients, studies show that the majority have normal or slightly reduced intelligence levels, with taller than average heights. In language, neurological motor skills, and learning abilities, patients may face risks of delayed development, but these issues are not exclusive to the Hyper-masculinity Syndrome and can be improved with appropriate intervention measures.
In genetics, a normal couple giving birth to a child with the Hyper-masculinity Syndrome is typically due to the father producing an extra Y chromosome during meiosis II. If the father himself has the Hyper-masculinity Syndrome, there is a possibility of having children with the Hyper-masculinity Syndrome or Klinefelter’s Syndrome, although the probability of this is relatively low.
Regarding the term “chimaeric” in the context of Hyper-masculinity Syndrome, it does not mean that a “supermale baby ‘ate’ another baby.” A chimaera refers to an individual composed of two or more cell lines with different karyotypes. In the case of the chimaeric Hyper-masculinity Syndrome, the different cell lines with varying karyotypes typically originate from a single zygote, or fertilized egg. This condition may arise due to abnormalities in the cell division process during early embryonic development, rather than the result of one “eating” another baby.
In summary, the Hyper-masculinity Syndrome is not inherited from “demonic genes,” but rather a common chromosomal variation. Scientific awareness of this disease and the avoidance of demonization are crucial for maintaining public health and social harmony. Dr. Zhang Lin’s interpretation provided the public with accurate information, urging all sectors of society to engage in discussions based on scientific knowledge, avoiding unnecessary panic and misunderstanding.
【来源】http://www.chinanews.com/life/2024/07-27/10258377.shtml
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