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Developmental abnormalities associated with long arm deletion of chromosome No. 6
Author(s) -
Bartoshesky Louis,
Lewis Michael B.,
Pashayan Hermine M.
Publication year - 1978
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.1399-0004.1978.tb04129.x
Subject(s) - long arm , genetics , chromosome , biology , medicine , gene
A patient is reported who had a partial terminal deletion of the long arm of chromosome No. 6. His clinical findings included developmental delay, failure to thrive, neurologic abnormalities, and multiple congenital malformations. Among the malformations were unusual facial features, cleft palate, atrial septal defect, and abnormalities of the external genitalia. The patien's features are compared with others who may have material deleted from the long arm of chromosome No. 6.