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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Double trisomy 48,XXX,+18 with multiple dysmorphic features.

Zi-Yan Jiang1, Xiao-Hui Wu, Chao-Chun Zou

  • 1Department of Pediatrics, Children's Hospital, Zhejiang University School of Medicine and the Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou, China.

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Summary
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Double trisomy (48,XXX,+18) is a rare chromosomal abnormality causing congenital issues. Early karyotyping is crucial for infants with trisomy 18-like features, particularly ear and reproductive anomalies.

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Area of Science:

  • Genetics
  • Medical Genetics
  • Human Genetics

Background:

  • Chromosomal abnormalities are frequent causes of congenital anomalies, developmental disorders, and intellectual disability.
  • Double trisomy 48,XXX,+18 is an exceptionally rare chromosomal condition.

Observation:

  • A neonate presented with poor response and multiple dysmorphic features including SGA, flat nasal bridge, widely-spaced eyes, left thumb deformities, flat facial profile, raised sternum, VSD, enlarged third lateral brain ventricle, and small liver.
  • This case expands the known spectrum of malformations associated with 48,XXX,+18.

Findings:

  • A literature review of 16 fetuses/infants with 48,XXX,+18 was conducted.
  • The current case adds to the phenotypic variability of this rare trisomy.

Implications:

  • In cases with clinical presentations resembling trisomy 18, especially with ear or reproductive malformations, consider double trisomy (48,XXX,+18).
  • Karyotyping is recommended for accurate diagnosis of this rare condition.