A case of de novo interstitial deletion of chromosome 9(p12p13). 1994

J C Giltay, and K B Gerssen-Schoorl, and A van der Wagen
Clinical Genetics Center Utrecht, The Netherlands.

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.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002899 Chromosomes, Human, Pair 9 A specific pair of GROUP C CHROMSOMES of the human chromosome classification. Chromosome 9
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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