Interstitial deletion of 8p: report of two patients and review of the literature.
Two female infants with de novo interstitial deletions of 8p were studied. One with a deletion from p11.21 to p11.23, and the other patient with a deletion from p11.23 to p21.3 had several clinical manifestations of the terminal 8p- syndrome. Band 8p11.23 was deleted in both patients. The clinical manifestations common to both patients included low birthweight, growth deficiency, congenital heart disease, mental retardation, dolichocephaly, low-set, malformed ears, high-arched palate, thin lips and micrognathia. Since these features may occur in most patients with chromosomal imbalance, and the terminal 8p- syndrome has hitherto been assumed to result from terminal deletions of 8p, ranging from p21.3 to p23, it is likely that these features are simply related to the chromosomal imbalance rather than to band specific imbalance of 8p11.23. The present study suggests that two different types of deletion, interstitial and terminal, are associated with still poorly defined, rather non-specific clinical features.
Tsukahara
M
M
Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
Murano
I
I
Aoki
Y
Y
Kajii
T
T
Furukawa
S
S
D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male