Pericentric inversions of chromosome 4: report of a new family and review of the literature.
A family was cytogenetically studied because of the birth of a male child with a multiple congenital anomaly pattern, in whom a dup (4q) recombinant was found. His phenotypically normal mother's karyotype showed an apparently balanced pericentric inversion in a chromosome 4. So as to analyze the occurrence of recombinants, the cytogenetic data from this family are compared with those of the 18 previously reported familial cases of pericentric inversions (PIs) of chromosome 4. The congenital anomalies observed in the child strongly suggest Wolf-Hirschhorn syndrome but some of his clinical features seem to be pathogenetically related to the presence of lymphedema during the intrauterine period. In the multiple congenital anomaly pattern observed in this patient, the lymphedema could be the consequence of the large 4q duplication. The review of chromosome 4 PIs with 4q duplication suggests that the q3 region should be examined when edema is detected prenatally.
Villa
A
A
ECEMC, Universidad Complutense, Madrid, Spain.
Urioste
M
M
Carrascosa
M C
MC
Vázquez
S
S
Martínez
A
A
Martínez-Frías
M L
ML
D000328:Adult; D007446:Chromosome Inversion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003582:Cytogenetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008209:Lymphedema / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D005810:Multigene Family