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Limb deficiencies in infants with trisomy 13
M L Martínez-Frías1, A Villa, R A de Pablo
1Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain. luisama@eucmos.sim.ucm.es
Insights
Limb deficiencies, such as ectrodactyly and oligodactyly, are observed in infants with trisomy 13. This study suggests these limb defects are part of the trisomy 13 anomaly spectrum.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Genetics
Background:
- Trisomy 13 (T13) is a chromosomal disorder associated with severe congenital anomalies.
- Limb deficiencies are recognized but not well-characterized features of T13.
Observation:
- This study reports three new cases of trisomy 13 with limb deficiencies, adding to a previously published case.
- These cases were identified within the Spanish Collaborative Study of Congenital Malformations (ECEMC).
Findings:
- A total of 75 T13 cases were identified in the ECEMC study.
- Limb deficiencies were present in 5.33% of these T13 cases.
- The frequency of limb deficiencies in T13 is comparable to their general occurrence in the population.
Implications:
- Limb deficiencies should be considered a significant component of the phenotypic spectrum in trisomy 13.
- This finding may aid in the diagnosis and genetic counseling for families affected by T13.
- Further research is warranted to understand the genetic and molecular mechanisms linking T13 and limb malformations.
Abstract:
In 1994, we published a case with trisomy 13 who presented with ectrodactyly [Urioste et al., 1994: Am J Med Genet 53:390-392]. Recently, Kuschel and Gillessen-Kaesbach [2000: Am J Med Genet 90:87-88] presented an infant with trisomy 13 who also had oligodactyly, and they considered their case as the second published with oligodactyly. Here, we present three cases with any type of limb deficiencies who, together with the one that was published previously [Urioste et al., 1994], correspond to the total of 75 cases with trisomy 13 identified in the Spanish Collaborative Study of Congenital Malformations (ECEMC). This gives us a minimum frequency of 5.33% (CI:1.45-13.65) for trisomy 13 cases having limb deficiencies whereas these defects have a frequency of 5.51 per 10,000 births in our population. Consequently, we think that limb deficiencies could be considered as one of the defects that constitute the spectrum of anomalies observed in infants with trisomy 13.