Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.
We report on a newborn infant with clinical and radiological manifestations of some type of short rib-polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes.
Urioste
M
M
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Martínez-Frías
M L
ML
Bermejo
E
E
Jiménez
N
N
Romero
D
D
Nieto
C
C
Villa
A
A
D000026:Abortion, Habitual / Q000235:genetics; D002356:Cartilage / Q000473:pathology; D002478:Cells, Cultured; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002894:Chromosomes, Human, Pair 4 / Q000648:ultrastructure*; D002971:Cleft Lip / Q000235:genetics; D003456:Cryptorchidism / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012779:Short Rib-Polydactyly Syndrome / Q000235:genetics* / Q000473:pathology; D012857:Situs Inversus / Q000235:genetics