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Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33
Author(s) -
Tomkins Darrell J.,
Hunter Alasdair G. w.,
Uchida Irene A.,
Roberts Maureen H.
Publication year - 1982
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.1399-0004.1982.tb01851.x
Subject(s) - craniofacial , breakpoint , long arm , palpebral fissure , craniofacial abnormality , chromosome , genetics , biology , anatomy , gene
A 10‐year‐old boy with developmental delay, craniofacial dy smorphia, malformations of the hands and feet and a cardiac malformation was found to have a small deletion of the distal region (q33 → qter) of the long arm of a chromosome 4. The clinical findings in this case are compared with those of a 17‐week‐old girl recently found to have the same deletion. Two additional patients with similar small deletions have been described in the literature. The similarity among the cases suggests the possibility of a deletion (4)(q33) syndrome. The major features of the syndrome are similar to those of larger deletions of the long arm of chromosome 4 and include mental and growth retardation, craniofacial dysmorphia including upslanting palpebral fissues, depressed nasal bridge, anteverted nares, abnormally shaped ears and micrognathia, and cardiac defects.