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Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality
Author(s) -
Wenger Sharon L,
McPherson Elizabeth W.
Publication year - 1997
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.1399-0004.1997.tb02516.x
Subject(s) - pectus carinatum , camptodactyly , karyotype , scoliosis , medicine , abnormality , anatomy , dermatoglyphics , arachnodactyly , biology , surgery , genetics , chromosome , pectus excavatum , marfan syndrome , psychiatry , gene
We report on an infant with a karyotype of 46,XY,del(2) (p11.2p13), the fourth reported case in the literature. At birth, the child had eventration of the diaphragm. His phenotype was suggestive of a connective tissue disorder with scoliosis, pectus carinatum, long slender fingers, camptodactyly, cryptorchidism, hypertonia and myopia. His facial appearance was mildly dysmorphic and strongly resembled a previously reported patient with the same deletion. The child expired at 2 months of age. Some generalizations can be made about the phenotype for del(2)(p11.2p13), despite reporting of cases at different ages.