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Related Experiment Videos

X-linked inheritance of Dandy-Walker variant.

Emma L Wakeling1, Matthew Jolly, Nicholas M Fisk

  • 1Kennedy-Galton Centre, North West London Hospitals NHS Trust, Harrow, Middlesex, UK. e.wakeling@ic.ac.uk

Clinical Dysmorphology
|February 2, 2002
PubMed
Summary

This study suggests X-linked recessive inheritance for isolated Dandy-Walker variant (DWV). Recurrence in two sisters with male fetuses highlights potential genetic factors in this rare condition.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Neurology

Background:

  • Dandy-Walker malformation (DWM) and its variant (DWV) are congenital brain abnormalities.
  • While often sporadic, familial recurrence of DWM/DWV is rarely reported.
  • Associated anomalies and chromosomal abnormalities are common in DWM/DWV.

Observation:

  • A family with two sisters experienced three male fetuses diagnosed with isolated Dandy-Walker variant (DWV) via antenatal ultrasound.
  • No other anomalies or chromosomal abnormalities were noted in the affected fetuses.

Findings:

  • The observed recurrence pattern in male fetuses from related mothers suggests a potential X-linked recessive inheritance pattern for isolated DWV.
  • This is the second report providing evidence for a possible genetic basis in isolated Dandy-Walker variant.

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Implications:

  • Understanding the genetic basis of isolated Dandy-Walker variant is crucial for genetic counseling.
  • Further research into X-linked inheritance patterns may aid in diagnosing and managing Dandy-Walker variant.
  • Antenatal ultrasound plays a key role in the early diagnosis of Dandy-Walker variant.