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Interstitial deletion of 8p: report of two patients and review of the literature
Author(s) -
Tsukahara Masato,
Murano Ichiro,
Aoki Yoshiharu,
Kajii Tadashi,
Furukawa Susumu
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04052.x
Subject(s) - biology , genetics , terminal (telecommunication) , medicine , telecommunications , computer science
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 birth‐weight, 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.