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Familial Del(18p) syndrome

M Tsukahara1, K Imaizumi, K Fujita

  • 1Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube City 755-8554, Japan. masato@po.cc.yamaguchi-u.ac.jp

American Journal of Medical Genetics
|February 15, 2001
PubMed

Insights

Deletion 18p syndrome affects siblings and their mother, presenting with distinct facial features and developmental delays. This case highlights potential fertility in affected mothers, emphasizing the need for genetic counseling.

Area of Science:

  • Genetics
  • Human Biology
  • Pediatrics

Background:

  • Deletion 18p syndrome is a rare chromosomal disorder.
  • Characterized by a range of developmental and physical abnormalities.
  • Genetic etiology involves the loss of genetic material from the short arm of chromosome 18.

Observation:

  • A family with three affected individuals (mother and two siblings) with del(18p).
  • Propositus presented with developmental delay, facial dysmorphia (round face, hypertelorism, broad nasal bridge), micrognathia, and genital anomalies.
  • Sister exhibited similar facial features and hypoplastic genitalia.
  • Mother displayed microcephaly, hypertelorism, broad nasal bridge, and clinodactyly, with facial shape evolving over time.

Findings:

  • Consistent phenotypic features of del(18p) syndrome observed across generations.
  • Facial characteristics like round face, hypertelorism, and broad nasal bridge are key indicators.
  • The mother's fertility despite del(18p) suggests varying expressivity and potential for transmission.

Implications:

  • Highlights the importance of comprehensive genetic evaluation in families with suspected chromosomal abnormalities.
  • Underscores the need for long-term follow-up and genetic counseling for individuals with del(18p) syndrome.
  • Suggests that fertility in mothers with del(18p) should be considered, requiring careful reproductive planning and counseling.

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