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Chromosomal abnormalities in children

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Chromosomal abnormalities in children refer to variations or disruptions in the number or structure of chromosomes, which are the genetic materials responsible for carrying the instructions necessary for the proper development and function of the body. These abnormalities can occur during the formation of sperm or egg cells, during fertilization, or in the early stages of embryonic development. Here are some common chromosomal abnormalities in children:

  • Down Syndrome (Trisomy 21):
    • Cause: Extra copy of chromosome 21.
    • Characteristics: Intellectual disabilities, distinctive facial features, heart defects, and an increased risk of certain health issues.
  • Trisomy 18 (Edwards Syndrome):
    • Cause: Extra copy of chromosome 18.
    • Characteristics: Severe intellectual disabilities, heart defects, and multiple physical abnormalities. Most individuals with trisomy 18 do not survive past infancy.
  • Trisomy 13 (Patau Syndrome):
    • Cause: Extra copy of chromosome 13.
    • Characteristics: Severe intellectual disabilities, facial abnormalities, and multiple organ defects. Survival beyond infancy is rare.
  • Turner Syndrome:
    • Cause: Missing or partially missing X chromosome in females.
    • Characteristics: Short stature, delayed puberty, infertility, and potential heart and kidney problems.
  • Klinefelter Syndrome:
    • Cause: Extra X chromosome in males (XXY).
    • Characteristics: Reduced fertility, delayed puberty, and potential learning and behavioral difficulties.
  • Triple X Syndrome:
    • Cause: Extra X chromosome in females (XXX).
    • Characteristics: Variable symptoms, which may include mild learning disabilities, speech and language delays, and emotional challenges.
  • XYY Syndrome:
    • Cause: Extra Y chromosome in males (XYY).
    • Characteristics: Generally no distinctive physical features, but some individuals may have mild learning disabilities or behavioral difficulties.
  • 22q11.2 Deletion Syndrome (DiGeorge Syndrome):
    • Cause: Deletion of a small piece of chromosome 22.
    • Characteristics: Heart defects, immune system issues, developmental delays, and characteristic facial features.
  • Cri-du-Chat Syndrome:
    • Cause: Deletion of a portion of chromosome 5.
    • Characteristics: High-pitched cry in infancy (resembling a cat’s cry), intellectual disabilities, and delayed development.
  • Prader-Willi Syndrome:
    • Cause: Deletion of genes on chromosome 15 inherited from the father.
    • Characteristics: Early feeding difficulties, overeating and obesity, intellectual disabilities, and behavioral issues.
  • Angelman Syndrome:
    • Cause: Deletion of genes on chromosome 15 inherited from the mother, or a mutation in the UBE3A gene.
    • Characteristics: Intellectual disabilities, seizures, happy demeanor, and limited speech.
  • Williams Syndrome:
    • Cause: Deletion of a segment of chromosome 7.
    • Characteristics: Intellectual disabilities, friendly and sociable personality, distinctive facial features, and cardiovascular issues.

Diagnosing chromosomal abnormalities typically involves genetic testing, such as karyotyping, chromosomal microarray analysis, or next-generation sequencing. Management and treatment depend on the specific syndrome and associated health issues. Early intervention, supportive care, and therapies are often essential for children with chromosomal abnormalities to address medical, developmental, and educational needs. Genetic counseling is also an important resource for families to understand the genetic basis of these conditions and make informed decisions regarding family planning and medical care.

The Pediatric.me content is provided for informational purposes only and is not intended as medical advice or as a substitute for medical advice of a physician