Eleven new cases of del(9p) and features from 80 cases.
We report 11 cases of del(9p) and review 69 previously published ones. Of the 80 cases, 39 have a del(9p) as the sole anomaly. The symptoms are typical and diagnosis should be suspected at birth. The sex ratio does not appear to be unbalanced. A cardiac murmur is often present but surgery is rarely necessary. Mean IQ is 48. The number of reported cases with an associated trisomy has previously been underestimated. Death in infancy, owing mainly to gross visceral malformations, occurs more often in cases of del(9p) with another unbalanced chromosome segment (16/41) than in cases of del(9p) as the sole anomaly (1/39).
Huret
J L
JL
Cytogénétique Laboratoire d'Hématologie, CHU La Milétrie, Poitiers, France.
Leonard
C
C
Forestier
B
B
Rethoré
M O
MO
Lejeune
J
J
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014314:Trisomy