[Nosologic evaluation of Noonan syndrome and description of nine cases]. / Inquadramento nosologico della sindrome di Noonan e descrizione di nove casi.

Noonan syndrome was first described over 20 years ago by Noonan and Ehmke. They defined a specific group of nine patients with valvular pulmonary stenosis who, in addition, had short stature, mild mental retardation, hypertelorism and unusual facies. The incidence of Noonan syndrome has been estimated to be between 1 in 1000 and 1 in 2500 live births. The primary biochemical defect in Noonan's syndrome is unknown. We analyzed 9 patients (5 males and 4 females) in an age range of 6 months to 10 years and 3 months with Noonan syndrome. Patients were diagnosed as having the syndrome if they had characteristic facies and a normal karyotype, plus one of the following signs: cardiac defects, short stature or undescended testes. All patients have ocular anomalies (epicanthal folds, ptosis of eyelids, hypertelorism, downslanting palpebral fissures and ocular proptosis). Congenital heart malformations are present in 8 patients and the more frequent cardiopath is pulmonary valve stenosis due to a dysplastic or thickened valve. Short stature is present in 6 patients and 3 of them are actually on treatment with rhGH. A moderate-mild mental retardation is present in 6 patients. Case n. 9 had a syringomyelia and tethered cord. These malformations are rarely reported in Noonan's syndrome.

[Monosomy 7qter: 2 new cases of chromosomal pathology with aspecific disorders of pre- and post-natal development]. / Monosomia 7qter: due nuovi casi di una patologia cromosomica con disturbi aspecifici dello sviluppo pre- e post-natale.

Many cases of 7q deletion associated with mental retardation and multiple malformations have been described, nevertheless it is quite different to recognize common features among these infants. In this paper the cases of two female infants with uncommon facial features and 7q deletion are described. We also try to recognize the phenotypic features of this chromosomal disorder.

Ring chromosome 16: a new case.

A 46,XX,r(16) "de novo" karyotype is reported in a 4 7/12-year-old girl. In spite of the mild cranio-facial dysmorphism without visceral malformations in r(16) patients, the proband's phenotype is similar to the other four previous case reports. This could support the hypothesis of a specific "r(16) syndrome".

Karyotype-phenotype correlation in partial trisomy 13. Report of a case due to maternal translocation.

A partial trisomy 13q, originating from a maternal translocation, 46,XX,t(3;13) (p26;q22), occurred in a 3-month-old infant, affected by multiple congenital anomalies. A review of the previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 is conclusive for the existence of a distinct clinical entity; however, it is difficult to assign particular malformations to specific chromosome bands.

[Cytogenic analysis in HBsAg positive subjects, healthy carriers and patients with acute-phase hepatitis]. / Analisi citogenetica in soggetti HBsAg positivi, portatori sani ed epatitici in fase acuta.

A highly significant incidence, ranging from 3% to 20% of chromosomal stickiness and agglutination, has been found in 100% of patients with viral hepatitis HBsAg positive and, in lower grade, in carriers of HBsAg. Whereas, such a structural aberration does not occur in normal subjects. No statistical difference has been found as regard chromosomal fragmentation, presence of incisures and numerical anomalies. A possible role of the observed alterations for an impaired cellular immune function observed in healthy HBsAg carriers has been discussed.

Acute agnogenic myeloid metaplasia with chromosomal abnormalities.

A case of a 37-year-old woman presenting with acute agnogenic myeloid metaplasia (AAMM) is described. The disease had a stormy course and was characterized by moderate splenomegaly, persistently depressed WBC counts, extramedullary hemopoiesis and presence of a high percentage of atypical myeloblasts in the peripheral smear. Platelets were persistently low, reticulocytes significantly below normal, notwithstanding anemia. Hot tended to fall progressively to intolerably low values in the absence of transfusion. The chromosomal mapping of peripheral blood revealed the presence of a trisomy of chromosome No. 8. This abnormality already demonstrated in two previous cases of acute myelofibrosis and the clinical course of the disease suggest that acute myelofibrosis and AAMM could be the same disease while chronic myelofibrosis should be considered a separate entity. Also, it is possible that AAMM with trisomy of chromosome No. 8 and stormy clinical course may be a different entity from the acute myeloproliferative disorders associated with other chromosomal abnormalities.

[Chromosome aberrations studied in short and long-term cultures of lymphocytes from patients with chronic hepatitis]. / Alterazioni cromosomiche osservate nelle colture a breve e a lungo termine di linfociti di epatitici cronici.

Chromosome aberrations of short and long-term cultured lymphocytes have been studied in 12 subjects with chronic hepatitis B. Short-term cultures show "stickiness", aneuploidy, and fragmentations. Long-term cultures show minor damages, made up almost totally of "lacunae" and sporadic fragmentations. Major size chromosomes appear to be more affected, among the latter those containing sites for the interferon. This latter findings would suggest that the interferon decrease in patients might be bound, even only partially to the virus-linked chromosome alterations.

[Trisomy of chromosome No. 10 in mosaic (author's transl)]. / Trisomie 10 en mosaique.

A case of trisomy of chromosome No. 10 in mosaic is described in a boy who died at the age of 6 months. The frequency of pathological cells is less than 30% (28% from lymphocytes, 20% from fibroblasts); it is possible, anyway, to rule out the hypothesis of a cellular cloning in vitro, since the trisomy 10 was observed in two different cultures, terminated after 48 and 72 hours. The parents' karyotype was normal, except for a litte number (6%) of cells with trisomy 10 from cultured lymphocytes of the mother. The morphological features of the present case are compared with those of the boy described by Higurashi et al. in 1969 (mosaic of trisomy 10, with a higher frequency of pathological cells).