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Related Experiment Videos

Pierre Robin sequence and interstitial deletion 2q32.3-q33.2.

C Houdayer1, M F Portnoï, F Vialard

  • 1Laboratoire de Biochimie et Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France. biochimie.trousseau@trs.ap-hop-paris.fr

American Journal of Medical Genetics
|August 3, 2001
PubMed
Summary

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Genetic analysis reveals a specific chromosomal deletion (2q32.3-q33.2) linked to Pierre Robin sequence (PRS). This finding supports genetic causes for PRS and its association with cleft palate.

Area of Science:

  • Human Genetics
  • Developmental Biology
  • Clinical Dysmorphology

Background:

  • Pierre Robin sequence (PRS) is characterized by micrognathia, cleft palate (CP), and glossoptosis, often accompanied by feeding and respiratory issues.
  • The etiology of PRS is considered genetic, supported by Mendelian syndromes and rare familial cases, suggesting a link to isolated CP.

Observation:

  • A case of PRS is reported in association with a deletion at 2q32.3-q33.2, resulting from an unbalanced reciprocal translocation (46,XX, t(2;21), del 2(q32.3q33.2)).
  • The deletion interval was refined using YAC probes and polymorphic DNA markers, flanked by D2S369 (telomeric) and D2S315 (centromeric).

Findings:

  • The identified deletion maps to a chromosomal region previously associated with isolated cleft palate.
  • This finding provides a candidate locus for PRS within the 2q32.3-q33.2 region.

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Implications:

  • Supports the hypothesis of genetic underpinnings for nonsyndromic Pierre Robin sequence.
  • Strengthens the genetic link between PRS and isolated cleft palate.
  • Advances understanding of the genetic basis of PRS and related craniofacial anomalies.