Carmela Ardisia

2q31.2q32.3 Deletion Syndrome : Report of an Adult Patient

A 36‐year‐old patient with a disorder characterized by severe mental retardation, behavioral problems, dysmorphic face, “muscular build,” and hand/foot anomalies, is reported. Following a diagnosis of de novo pericentric inversion of chromosome 8 based on standard cytogenetic analysis, a subsequent 75 kb array‐CGH investigation disclosed a deletion spanning for about 13.7 Mb in the 2q31.2q32.3 region. Whole painting of chromosome 8 established the intrachromosomal nature of the rearrangement and FISH analysis with locus‐specific probes confirmed the deletion on the long arm of chromosome 2. The deleted region, clinical outcome, and medical history in this patient are mainly superimposable to those reported in a published 8‐year‐old boy, suggesting that this genomic segment is prone to rearrangements and its hemizygosity gives rise to a clinically recognizable syndrome. The role of some genes mapping in the deleted region and related with distinct disorders is discussed. Interestingly, deletion of MSTN gene, a negative regulator of muscle growth, was associated in our patient with a “muscular build,” a feature which could be regarded as a handle for clinical recognition of this syndrome.

Expression of aphidicolin-induced fragile sites in lymphocytes of patients with breast cancer

The expression of fragile sites induced by aphidicolin (APC) was evaluated on metaphase chromosomes obtained from the peripheral blood lymphocytes of 26 women with breast cancer and 15 sex- and age-matched normal controls. Both the proportion of damaged cells (P < 0.001) and the mean number of gaps and breaks per cell (0.02 < P < 0.05) were significantly higher in the patient group. There were no differences in either the age-related fragile site levels or the expression of single fragile sites between patients and controls. Our findings indicate an increased genetic instability in women with breast carcinoma.

Deletion 2p15-16.1 syndrome: case report and review.

We report on a 9‐year‐old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1)t(1;7)(q23q32.1)]; and a 2p16.1 deletion, spanning about 3.5 Mb of genomic DNA, shown by SNP‐array analysis [arr 2p16.1 (56,706,666–60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient were similar to those reported in five published cases, suggesting that this genomic region is prone to recombination and its hemizygosity results in a distinct although variable spectrum of clinical manifestations.

Trisomy 4 in acute nonlymphocytic leukemia: Report of two cases and review of the literature

Two patients with M2 subtype of acute nonlymphocytic leukemia (ANLL) and trisomy 4 as a primary karyotype change are described. The abnormality was observed in 100% of bone marrow (BM) metaphases in both cases. It appeared alone in one case and was associated with trisomy 13 in 94% of metaphases in the other. These are the second and third cases of ANLL with trisomy 4 documented in Italy. Neither patient appears to have incurred any environmental or therapeutic insult.

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Trisomy 2 Mosaicism With Caudal Dysgenesis, Hirschsprung Disease, and Micro-Anophthalmia Paolo Prontera, Gabriela Stangoni, Carmela Ardisia, Daniela Rogaia, Amedea Mencarelli, and Emilio Donti* Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia and ‘‘S. Maria della Misericordia’’ Hospital, Perugia, Italy Neonatology Unit, ‘‘S. Maria della Misericordia’’ Hospital, Perugia, Italy

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother†

FMR1, FMR2, and SLITRK2 Deletion Inside a Paracentric Inversion Involving Bands Xq27.3–q28 in a Male and His Mother Simona Cavani,* Paolo Prontera, Marina Grasso, Carmela Ardisia, Michela Malacarne, Cristina Gradassi, Massimiliano Cecconi, Amedea Mencarelli, Emilio Donti, and Mauro Pierluigi Laboratory of Genetics, Galliera Hospital, Genoa, Italy Medical Genetics Unit, University and Hospital of Perugia, Perugia, Italy

MASA syndrome : ultrasonographic evidence in a male fetus

The recent identification of a common etiology among MASA syndrome (McKusick 303300), X‐linked hydrocephalus (HSAS) (McKusick 307000) and other related neurological disorders, which had previously been considered distinct nosological entities, allowed us to diagnose MASA syndrome in a male fetus in a primigravida at the 29th week of gestation by sonographic signs of the MASA spectrum such as hydrocephalus and hypoplasia of corpus callosum. Indeed, the evidence of an X‐linked neurological disease in the brother and the maternal uncle of the pregnant women enabled us to estimate a 25% risk of a male fetus being an affected hemizygote. The way in which a prenatal diagnosis, based on instrumental procedures, was reached is described since the authors were unable to perform, at the time of the observation, a molecular confirmation which was carried out only after birth. Copyright

EFFECT OF IFNα THERAPY ON SECONDARY Ph1‐POSITIVE CLONES

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