Premium
A case of de novo interstitial deletion of chromosome 9(p12p13)
Author(s) -
Giltay Jacques C.,
GerssenSchoorl Klasien B. J.,
Wagen Ab
Publication year - 1994
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.1399-0004.1994.tb04241.x
Subject(s) - genetics , chromosome , biology , deletion syndrome , long arm , medicine , phenotype , gene
The present paper describes a girl with a small de novo deletion of chromosome 9(p12p13). This deletion has not been published previously. The deleted fragment is clearly outside the region involved in the so‐called deletion 9p syndrome. The patient had mild dysmorphic features and feeding problems during the first weeks of life, but is now developing well. Because of the lack of severe clinical features in this patient, we speculate that the deletion may be prevalent in other patients who have no clinical indication for chromosome investigation.