Ring chromosome 7 and sacral agenesis.
A ring chromosome 7 was found in a 19-month-old girl with microcephaly, growth and developmental delay, multiple angiomas, and partial sacral agenesis. Absent sacrum is a frequent finding in patients with 7q terminal deletions; in fact, genes involved in the sacral agenesis are localized in 7q36. However, this anomaly was not described previously in patients with a ring chromosome 7. High resolution G-banding chromosome and fluorescence in situ hybridization (FISH) demonstrated that our patient lost this region during ring formation.
Rodríguez
L
L
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Sanchís
A
A
Villa
A
A
Cánovas
A
A
Peris
S
S
Estívalis
M
M
Pons
S
S
Martínez-Frías
M L
ML
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006391:Hemangioma / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D009030:Mosaicism / Q000235:genetics; D012303:Ring Chromosomes; D012445:Sacrococcygeal Region / Q000002:abnormalities*