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Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral

S Cavani1, C Perfumo, F Faravelli

  • 1Laboratorio di Genetica Umana, EO Ospedali Galliera, Genova, Italy.

Prenatal Diagnosis
|October 15, 2003
PubMed

Insights

A cryptic translocation on chromosomes 1 and 6 caused severe developmental issues, including intrauterine growth retardation and cerebral malformations, in a fetus. This familial genetic condition led to multiple miscarriages and affected several family members across three generations.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Research

Background:

  • Familial cryptic translocations can lead to unbalanced chromosomal abnormalities in offspring.
  • Understanding the inheritance patterns of such translocations is crucial for genetic counseling and reproductive planning.

Observation:

  • A fetus presented with intrauterine growth retardation (IUGR) and significant cerebral malformations.
  • The fetus's karyotype revealed a 46,XY,der(1),t(1;6)(p36.3;q25.2) chromosomal abnormality.
  • This abnormality was traced to a cryptic translocation segregating through three generations of the family.

Findings:

  • A balanced translocation was identified in multiple family members, including the mother, grandmother, uncle, and aunt.
  • A female cousin exhibited dysmorphisms, hydrocephalus, and mental retardation as a carrier of partial trisomy 1p and partial monosomy 6q.
  • The parents had other pregnancies resulting in a male carrier of the balanced translocation and two fetuses with 1p36.3-pter monosomy and 6q25.2-qter trisomy.

Implications:

  • This case highlights the complex inheritance and phenotypic variability associated with cryptic translocations.
  • Accurate genetic diagnosis and family studies are essential for identifying carriers and assessing risks for affected offspring.
  • The findings underscore the importance of cytogenetic analysis in cases of recurrent miscarriages and congenital anomalies.

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