Crossed renal ectopia with pelvic lipomatosis: a new syndrome involving chromosome 1.
An 18-year-old male patient is described who possesses both kidneys on one side (crossed renal ectopia), together with pelvic lipomatosis. In general, lipomatosis is benign, but here the tissue shows the rare feature of malignancy. Chromosomally, the patient is typically characterised by somatic translocations involving chromosome 1 (37% metaphases); these almost always exhibit a whole chromosome translocation with chromosome 6 (35%), although involvement of chromosome 1 with chromosome 8 is present in 2% of metaphases. Other chromosomal features encountered in Giemsa-stained and G-banded preparations from lymphocyte cultures include the prevalence of a small Y chromosome in 25% of metaphases, the presence of marker dots in 20%, and acrocentric associations in 8%-10% of metaphases. However, more than 50% of metaphases have a normal 46XY karyotype with a normal-sized Y-chromosome. Crossed renal ectopia with pelvic lipomatosis can therefore be assigned to a new syndrome characterised by a whole-chromosome translocation involving chromosomes 1 and 6.
Goswami
H K
HK
Department of Genetics, University Campus, Bhopal, India.
Rangnekar
G V
GV
Varshney
S
S
Gandhi
P
P
Jain
B
B
Joshi
A
A
D000293:Adolescent; D002878:Chromosomes, Human, Pair 1 / Q000502:physiology*; D002896:Chromosomes, Human, Pair 6 / Q000502:physiology; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008068:Lipomatosis / Q000235:genetics*; D008297:Male; D010386:Pelvic Neoplasms / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*