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Related Experiment Videos

Duplication 3q(q21----qter) without limb anomalies.

S R Ismail1, B G Kousseff, S M Kotb

  • 1Human Genetics Department, University of Alexandria, Egypt.

American Journal of Medical Genetics
|March 15, 1991
PubMed
Summary

A rare genetic duplication (3q----qter) in a male infant presented with unique facial and physical features but no limb anomalies, unlike previously reported cases. This case challenges current understandings of embryonic development and genetic disorders.

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Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX.

American journal of medical genetics·2001

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Chromosome 3q duplication syndrome is a rare genetic disorder.
  • Previous cases consistently reported limb anomalies alongside other characteristic features.
  • Understanding the phenotypic variability is crucial for genetic counseling and diagnosis.

Observation:

  • A 2.5-month-old male infant presented with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases.
  • Cytogenetic analysis revealed a duplication of 3q----qter (46,XY,der(6),t(3;6)(q21;p25)pat).
  • Notably, this patient lacked the limb anomalies typically associated with this genetic duplication.

Findings:

  • The patient's karyotype, 46,XY,der(6),t(3;6)(q21;p25)pat, confirmed the 3q----qter duplication.

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  • The absence of limb anomalies in this case is a significant deviation from the established phenotype of 3q duplication syndrome.
  • This observation highlights the potential for variable expressivity within chromosomal disorders.

    • Implications:

    • This case suggests that limb development may be less consistently affected by 3q----qter duplication than previously thought.
    • It prompts re-evaluation of the genetic and developmental mechanisms underlying limb morphogenesis in chromosomal anomalies.
    • Concepts such as chronogenetics, heterochrony, and developmental field defects may offer frameworks for understanding such unique presentations.