RT Journal Article
SR Electronic
T1 A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 804
OP 806
DO 10.1136/jmg.31.10.804
VO 31
IS 10
A1 Calabrese, G
A1 Franchi, P G
A1 Stuppia, L
A1 Mingarelli, R
A1 Rossi, C
A1 Ramenghi, L
A1 Marino, M
A1 Morizio, E
A1 Peila, R
A1 Antonucci, A
YR 1994
UL http://jmg.bmj.com/content/31/10/804.abstract
AB A newborn infant is reported who had aganglionic megacolon, renal hypoplasia, severe growth retardation, generalised hypotonia, and various dysmorphic features. Chromosome analysis of lymphocytes and fibroblasts showed a ring chromosome 10 with breakpoints at p13-15 and q26. AluI digestion showed that the ring chromosome was monocentric. FISH with an alpha satellite probe specific for chromosome 10 showed one signal only in about 20% of interphase nuclei. It is suggested that aganglionic megacolon could result from dynamic somatic mosaicism owing to loss of the ring chromosome.