Trisomy 13

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.

Overlapping fingers

A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.


Total: 1

                       


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PMID (PMCID)
29278735
 FEMALE Infant
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS.
Eur J Med Genet. 2018;61(5):257-261.
With only one previously described homozygous RAD51C variant to date, our findings expand the phenotypic spectrum of FANCO and suggest it should be part of the antenatal differential diagnosis for trisomy 13 and 18, due to the presence of atypical findings such as cleft lip and palate, holoprosencephaly, growth restriction and overlapping fingers.