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2q35qter duplication syndrome: phenotypic definition

P Grammatico1, C Di Rosa, R Rinaldi

  • 1Cattedra di Genetica Medica, Università degli Studi La Sapienza, Roma, Italia.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1997
PubMed
Summary

A rare 2q35qter duplication, identified in two siblings with severe intellectual disability and congenital anomalies, was linked to a balanced maternal translocation. This genetic finding helps define the typical phenotype associated with this specific chromosomal abnormality.

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Area of Science:

  • Genetics
  • Clinical Medicine
  • Developmental Biology

Background:

  • A balanced maternal translocation led to a 2q35qter duplication in two siblings.
  • This chromosomal abnormality is associated with multiple congenital anomalies and severe intellectual disability.

Observation:

  • The study details the clinical features of two affected siblings.
  • These features are compared with previously reported cases of 2q35qter duplication.

Findings:

  • A typical phenotype for 2q35qter duplication is described.
  • Characteristic features include hypotonia, hypertelorism, dysmorphic facial features, clinodactyly, and cryptorchidism.

Implications:

  • This research contributes to understanding the phenotypic spectrum of 2q35qter duplications.

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  • It aids in genetic counseling and diagnosis for families with similar chromosomal rearrangements.