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Biomedical subjects

G Giovannelli

Publications and source records attributed to G Giovannelli.

At least 55 records · Page 3Linked to original sources
PubMed1977

Endocrine aspects of trisomy 4p.

The main endocrinological parameters were investigated in two sisters affected with trisomy 4p. Our findings rule out any impairment of the endocrine system in this rare syndrome, even in those cases in which stunting of growth is more pronounced. The marked weight deficit in one of the two patients had no relationship to the chromosomal anomaly; it was determined by the association of a deficit of immunoglobulin with a Giardia Lamblia infestation.

Adolescent↗
PubMed1975

The radiological pattern associated with the trisomy of the short arm of chromosome No 4.

A fairly constant constellation of roentgen anomalies has been detected in the skeleton of 9 patients with the trisomy of the short arm of chromosome No 4. The more common changes involve the skull, spine and pelvis, while the limbs, as well as the internal organs, are less affected. Microcephaly, hypertelorism, small and closed sella, malocclusion, scoliosis, "square" vertebral bodies, narrow iliac wings, wide iliac angles and narrow acetabular ones, coxa valga, medial recumbency of the proximal tibial epiphysis and retarded bone age are usual findings.

Chromosome Aberrations↗
PubMed1975

Trisomy of the distal third of the long arm of chromosome 10. Report of a new case due to a familial translocation t(10;18) (q24;p11).

A new case of trisomy of the distal third of the long arm of chromosome 10 due to familial translocation t(10;18) (q24;p11) is described. The main clinical and radiological signs may be summarized as follows: growth at lower limits of normal; poor facial expression; round, flat face with high, broad forehead, fine, highly arched eyebrows, pseudohyperthelorism, microphthalmia, flat, broad bridged nose, hypoplasia of the bony structures of the central area of the face, "fish mouth", macroglossia, micrognathia; short neck; marked dextroconvex lumbar scoliosis; psychomotor delay of mild degree; selective, more pronounced speech delay. Our observation confirms the suggestion by Yunis and Sanchez that a clinical syndrome corresponds to this chromosomal alteration. However, some interesting differences from the previously reported cases, i.e., the absence of microcephaly and of severe impairment of growth and psychomotor development induce us to establish a more favorable prognosis in our case.

Abnormalities, Multiple↗
PubMed1974

[Trisomy 4p].

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Abnormalities, Multiple↗