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Biomedical subjects

F S Spedicato

Publications and source records attributed to F S Spedicato.

3 recordsLinked to original sources
PubMed1992

Partial deletion 10p syndrome. Report of two patients.

Two patients with partial deletion of the short arm of chromosome 10 are described. They showed most of the features observed in twenty other known patients, including growth retardation, mental deficiency, abnormally shaped skull, distinct facial dysmorphisms, cardiac and genitourinary malformations, and limbs anomalies. One of our patients also had features of the DiGeorge sequence, which has been found in five other cases with this imbalance.

Abnormalities, Multiple↗
PubMed1985

An unusual variant chromosome 9 with an extra C-negative, G-dark segment in the short arm.

An unusual variant chromosome 9 is described in a mother and a daughter: an extra G-dark, C-negative and G-11 negative chromosomal segment is present in the short arm in the absence of apparent phenotypic effects. This extra material is also Ag-As negative and exhibits a fluorescence similar in intensity to that of band 9q21 when stained by QFQ and DAPI/AMD, and to that of band 9p13 in RBA-banded preparations; it is slightly less fluorescent when R-banded by chromomycin A3. The possibility of an association with an increased risk of spontaneous abortion is presented.

Chromosome Aberrations↗