A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
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.
Calabrese
G
G
Istituto di Biologia e Genetica, Università di Chieti, Italy.
Franchi
P G
PG
Stuppia
L
L
Mingarelli
R
R
Rossi
C
C
Ramenghi
L
L
Marino
M
M
Morizio
E
E
Peila
R
R
Antonucci
A
A
D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D003106:Colon / Q000002:abnormalities / Q000294:innervation; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008214:Lymphocytes / Q000473:pathology; D008531:Megacolon / Q000235:genetics*; D012303:Ring Chromosomes