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PubMedDate not supplied

[Lipoprotein (a)].

Lipoprotein(a) [Lp(a)] is a high molecular weight plasma protein structurally related to low density lipoprotein (LDL), but with distinct metabolic and biologic features. Six different isotypes may be found among the general population; they are inherited as a codominant autosomic monogenic trait. Lp(a) levels in the blood are strictly conditioned by the isotype and much less, if at all, by other environmental or metabolic factors. The Lp(a) catabolic rate is very similar among different individuals and comes from the balance of two complementary pathways: uptake from blood by tissue cells via LDL-receptors, and non-receptor macrophagic internalization at the level of the reticulo-endothelial system. Its high content in lysolecithins and cholesterol, and the close structural similarity of its peptidic component to plasminogen, make Lp(a) a crucial "meeting point" of two main physiopathologic elements of atherogenesis:lipoprotein metabolism and fibrinolysis. This particular role would seem to explain the experimental finding of a close relation between Lp(a) plasmatic levels and the severity of atheromatous processes. Deep understanding of Lp(a) physiopathology is therefore expected to be a powerful tool for the creation of a comprehensive and practical model of atherogenesis and to enable us to deal with prognostic, preventive and therapeutic problems in this field from a new view point.

Arteriosclerosis↗
PubMed2002

Adult stem cell plasticity.

Observations made in the last few years support the existence of pathways, in adult humans and rodents, that allow adult stem cells to be surprisingly flexible in their differentiation repertoires. Termed plasticity, this property allows adult stem cells, assumed, until now, to be committed to generating a fixed range of progeny, to switch, when they have been relocated, to make other specialized sets of cells appropriate to their new niche. Reprogramming of some adult stem cells can occur in vivo; the stem cells normally resident in bone marrow appear particularly flexible and are able to contribute usefully to multiple recipient organs. This process produces cells with specialized structural and metabolic adaptations commensurate with their new locations. In a few examples, the degree of support is sufficient to assist or even rescue recipient mice from genetic defects. Some studies provide evidence for the expansion of the reprogrammed cells locally, but in most it remains possible that cells arrive and redifferentiate, but are no longer stem cells. Nevertheless, the fact that appropriately differentiated cells are delivered deep within organs simply by injection of bone marrow cells should make us think differently about the way that organs regenerate and repair. Migratory pathways for stem cells in adult organisms may exist that could be exploited to effect repairs using an individual's own stem cells, perhaps after gene therapy. Logical extensions of this concept are that a transplanted organ would become affected by the genetic susceptibilities of the recipient, alleles that re-express themselves via marrow-derived stem cells, and that plasticity after bone marrow transplantation would also transfer different phenotypes, affecting important parameters such as susceptibility to long-term complications of diabetes, or the ability to metabolize drugs in the liver. This article reviews some of the evidence for stem cell plasticity in rodents and man.

Animals↗
PubMed1989

Regional cerebral glucose utilization reveals widespread abnormalities in the motor system of the rat mutant dystonic.

Rats with an inherited movement disorder (dystonic, dt), their phenotypically normal littermates, and normal unrelated controls were studied using a metabolic mapping technique, 2-deoxyglucose autoradiography. This approach was used to identify potential sites of abnormality underlying the movement disorder, as no morphological abnormalities using light and electron microscopic techniques have been identified in this mutation. There was a significant overall glucose utilization (GU) reduction in the dt rats and their littermate controls when they were at rest and not displaying abnormal movements. Conversion of GU values to standard scores showed abnormalities in dt compared with both control groups in the following areas: deep cerebellar nuclei, locus coeruleus, pontine gray, ventrolateral-ventromedial thalamic complex, nucleus of the third nerve, lateral habenula, and basolateral amygdala. Littermates were different from nonlittermates in several regions, including the dentate and red nuclei. A study of relative GU performed in animals displaying dystonic movements also showed abnormalities in the deep cerebellar nuclei and locus coeruleus, and in the red nucleus, external cuneate, and medial septum. Correlations computed for GU in pairs of regions with known anatomical connections suggested that cerebellar, substantia nigra, and basal ganglia efferents may be abnormal. These studies complement existing biochemical and neuropharmacological data which show abnormalities in the cerebellum of the dt rat. Additionally, the function of brain stem and even basal ganglia nuclei is affected in this mutant, perhaps as a consequence of abnormal cerebellar activity. The partial effects in the littermates suggest that abnormalities in only a few regions are not sufficient to produce the movement disorder, and a gene dose effect may exist.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1998

A common 4G allele in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene as a risk factor for pulmonary embolism and arterial thrombosis in hereditary protein S deficiency.

Reduced fibrinolytic capacity due to increased plasminogen activator inhibitor-1 (PAI-1) activity in plasma is a common finding in patients with coronary heart disease or venous thromboembolism, although its clinical significance is debated. Recently, a dimorphism in the PAI-1 promoter (4G-5G) has been reported and homozygosity for the 4G allele is associated with increased transcription and higher PAI-1 levels. Homozygous 4G genotype has been suggested to be a risk factor for myocardial infarction. In the present study, the 4G-5G dimorphism was determined in 349 individuals from 21 thrombophilic families with hereditary protein S deficiency and in 140 unrelated healthy controls. Among the 143 protein S deficient individuals, there was no relationship between deep or superficial venous thrombosis and the PAI-1 dimorphism. However, 26% (12/46) of individuals having protein S deficiency combined with homozygosity for the 4G allele had suffered pulmonary embolism as compared to 7% (7/97) of protein S deficient individuals carrying at least one 5G allele (p = 0.0019). In protein S deficient individuals, arterial thrombosis was found to be associated with smoking and 4G homozygosity. No association was found between the PAI-1 dimorphism and arterial or venous thromboembolism in family members without protein S deficiency. In conclusion, the PAI-1 genotype affects the phenotypic expression of thrombophilia in protein S deficient individuals.

Adolescent↗
PubMed1997

E-cadherin expression in human epithelial ovarian cancer and normal ovary.

The ovarian surface epithelium (OSE) is the origin of the majority of human ovarian cancers. These adenocarcinomas are characterized by initial local growth followed by spreading into the peritoneal cavity at later stages of tumor progression. The cell-adhesion molecule E-cadherin (E-cad) plays an important role in maintaining tissue integrity. Disappearance or impaired function of E-cad have often been associated with tumor formation and invasion in vivo and in vitro. The cell-specific expression of E-cad was investigated in normal human ovaries (n = 12), in benign (n = 5) and borderline (n = 4) ovarian epithelial tumors and in adenocarcinomas of different stages and histological grades (n = 18), by immunohistochemistry and immunoblotting. An ovarian cancer cell line (NIH-OVCAR3) was used as a reference. The epithelial origin of the cells was confirmed with cytokeratin (AE1/AE3) staining. In normal ovaries, the expression of E-cad was limited to inclusion cysts or deep clefts lined with OSE, whereas no staining of the OSE could be demonstrated at the surface of the ovary. In contrast, benign and borderline tumors uniformly expressed E-cad. This was observed in malignant tumors of all stages despite their degree of differentiation. E-cad was also present in metastasis from such tumors. The cell-specific expression of E-cad in inclusion cysts of normal ovaries and in epithelial layers of borderline tumors indicates a role for E-cad in the early events of the progression to a malignant phenotype. E-cad was not downregulated in later stages of ovarian cancer progression.

Adenocarcinoma, Mucinous↗
PubMed1999

Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

We report a case of Angelman syndrome (AS) with paternal uniparental disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had frequent, but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech. She had deep-set eyes, protruding tongue, and prominent chin. The karyotype was normal. DNA analysis with microsatellites from chromosome 15 showed no inheritance of maternal alleles both within and outside the AS critical region. Proximal markers showed reduction to homozygosity of paternal alleles, intermediate markers showed nonreduction, and distal markers reduction, thus suggesting a meiosis II nondisjunction event in the father with two crossovers. This is, to our knowledge, the first reported case of AS due to meiosis II nondisjunction. We present detailed physical measurements in this patient, adding to the clinical description of the milder phenotype in AS due to pUPD.

Angelman Syndrome↗
PubMed2005

Are solitary and gregarious Mormon crickets (Anabrus simplex, Orthoptera, Tettigoniidae) genetically distinct?

Phase polyphenisms are usually thought to reflect plastic responses of species, independent of genetic differences; however, phase differences could correlate with genetic differentiation for various reasons. Mormon crickets appear to occur in two phases that differ in morphology and behaviour. Solitary individuals are cryptic and sedentary whereas gregarious individuals form bands, migrate, and are aposematically coloured. These traits have been thought to be phenotypically plastic and induced by environmental conditions. However, there has been no previous investigation of the extent of genetic differences between solitary and gregarious populations of this widespread North American species. We sequenced two mitochondrial genes, COII and COIII, in samples of Mormon crickets from gregarious populations west of the continental divide and solitary mountain populations primarily east of the divide. Sequencing revealed two genetically distinct clades that broadly correspond with the solitary eastern populations and the mainly gregarious western populations. We used coalescent modelling to test the hypothesis that the species consists of two deep genetic clades, as opposed to a series of equally distinct populations. Results allowed us to reject the null hypothesis that a radiation independent of phase produced these clades, and molecular clock estimates indicate the time of divergence to be approximately 2 million years ago. This work establishes that the solitary populations found in the mountains on the eastern slope are part of a clade that is genetically distinct from the western populations, which are primarily gregarious, and the implications of this apparent correlation between phase and genetic differentiation are discussed.

Animals↗
PubMed2005

Aldehyde dehydrogenase 2 activity affects symptoms produced by an intraperitoneal acetaldehyde injection, but not acetaldehyde lethality.

Aldehyde dehydrogenase 2 (ALDH2) is an important enzyme that oxidizes acetaldehyde. Approximately 45% of Chinese and Japanese individuals are inactive ALDH2 phenotype; acute acetaldehyde toxicity has not been evaluated in these populations. We compared the acute acetaldehyde toxicity between wild-type (Aldh2+/+) and Aldh2-inactive transgenic (Aldh2-/-) mice who were administered an intraperitoneal (ip) injection of a single dose of acetaldehyde. This comparison was made based on the LD(50) values of acetaldehyde and the symptoms following the ip injection. Blood acetaldehyde level was measured in the 400 mg/kg dose group. Immediately after administration of acetaldehyde, the mice exhibited hypoactivity and staggering gait. Subsequently, symptoms such as pale skin, prone position, coma, and abnormal deep respiration were observed. In cases of death, dyspnea, wheezing, and hypothermia were observed from 15 to 30 min after the administration. In cases of survival, crouching, bradypnea, flushing and piloerection were observed. Significant latency of symptom recovery was found in the Aldh2+/- mice as compared with the Aldh2+/+ mice; however, no statistical difference was observed in the acetaldehyde LD(50) values. This might be attributable to the absence of a significant difference in the blood acetaldehyde concentrations in both mice during the first 0-15 min following administration; however, acetaldehyde elimination delay was observed in the Aldh2-/- mice as compared with the Aldh2+/+ mice. Acetaldehyde toxicity difference was observed between the Aldh2+/+ and Aldh2-/- mice; however, no difference in acetaldehyde lethality was observed by administration of a single dose of an ip acetaldehyde injection.

Acetaldehyde↗
PubMed1997

Immunohistochemical study of MUC5AC expression in human gastric carcinomas using a novel monoclonal antibody.

In order to investigate the expression of MUC5AC mucin in normal gastric mucosa and gastric carcinomas, we produced 3 monoclonal antibodies (MAbs) using a MUC5AC synthetic peptide. The immunohistochemical study was performed using one of these MAbs (CLH2) which reacted with the different designs of peptides based on the MUC5AC tandem repeat and with native and deglycosylated mucin extracted from gastric tissues. CLH2 immunoreactivity was restricted to foveolar and mucopeptic neck cells in normal gastric mucosa. No reactivity was observed in type-I intestinal metaplasia. Out of 66 gastric carcinomas, 42 (63.6%) expressed MUC5AC. Most diffuse carcinomas were positive (83.3%), whereas only 59.3% of intestinal and 40.0% of atypical carcinomas expressed MUC5AC (p < 0.05). Gastric carcinomas with mixed pattern showed immunoreactivity in diffuse areas and decreased immunoreactivity in intestinal areas. Every early gastric carcinoma expressed MUC5AC, in contrast to 58.6% of advanced carcinomas (p < 0.05). A trend toward decreased immunoreactivity was observed in deep areas of advanced carcinomas in comparison with the respective superficial areas. Taking together the specific staining of foveolar and mucopeptic neck cells and the absence of immunoreactivity in intestinal metaplasia, we conclude that MUC5AC expression may be used as a marker of gastric differentiation. This assumption is further supported by the finding of MUC5AC immunoreactivity in most diffuse carcinomas, which usually display morphologic and histochemical signs of gastric differentiation. The expression of MUC5AC in early gastric carcinomas, regardless of their histologic type, suggests that all gastric carcinomas retain at least some cells with a gastric phenotype during the first steps of neoplastic development.

Amino Acid Sequence↗
PubMed2004

Isolation and disruption of the melanin pathway polyketide synthase gene of the softwood deep stain fungus Ceratocystis resinifera.

Ceratocystis resinifera hyphae produce a black melanin pigment causing a deep stain in softwood logs. We exploited the homology of polyketide synthases to clone PKS1, a gene responsible for dihydroxynaphthalene-melanin biosynthesis in C. resinifera. Sequence analysis indicated that PKS1 has two introns near its 5(') end and encodes a 2188-amino acid polypeptide with five functional domains: beta-ketoacyl synthase, acyl transferase, two acyl carrier proteins and a thioesterase/Claisen cyclase. A gene disruption construct designed to replace a portion of PKS1 with a hygromycin resistance cassette was transformed into C. resinifera through Agrobacterium tumefaciens-mediated transformation. PKS1 null mutants had an albino phenotype, and pigmentation was restored by the addition of scytalone, a melanin pathway intermediate. The disruption of PKS1 and restoration of pigmentation with scytalone confirmed the presence of a dihydroxynaphthalene-melanin pathway in C. resinifera. The transformation method described in this paper is the first reported for a Ceratocystis species.

Amino Acid Sequence↗
PubMed1994

Expression of the trefoil peptides pS2 and human spasmolytic polypeptide (hSP) in Barrett's metaplasia and the native oesophageal epithelium: delineation of epithelial phenotype.

The distribution of the two trefoil peptides pS2 and human spasmolytic polypeptide (hSP) and their mRNAs was investigated in 90 selected oesophageal biopsies, 23 of which contained epithelium with wholly gastric cardiac-type morphology, 52 specialized (intestinal)-type metaplasia, and 15 non-metaplastic oesophageal epithelium. No fundic-type epithelium was represented. The cardiac-type epithelium resembled true gastric antral epithelium, with hSP and pS2 mRNA localization to the superficial/foveolar compartment and hSP mRNA alone in deeper glands. The pattern of peptide distribution was broadly in line with the mRNA, but hSP peptide was generally not demonstrable in the surface epithelium. pS2 immunostaining was diffusely cytoplasmic, whereas in specialized-type mucosa it was aggregated and cytoplasmic. hSP mRNA was demonstrable in surface epithelium of incomplete- but not complete-type intestinal (specialized) metaplasia. Deep glands with morphological features of pyloric glands/ulcer-associated cell lineage (UACL) typically contained only hSP peptide and its mRNA. In three biopsies containing specialized epithelium, small foci morphologically identical to true small intestinal surface epithelium were seen in which only pS2 mRNA and peptide were found and then only in rare goblet cells. Neither squamous epithelium nor oesophageal glands contained demonstrable pS2/hSP mRNA or peptide. The function of these proteins in the metaplastic mucosa of Barrett's oesophagus is unknown but they may reflect an epithelium responding to repeated insult. Their localization facilitates definition of the disparate epithelium types seen in this portion of the gut, with both native gastric and intestinal epithelia, and may help to pinpoint high-risk epithelium in Barrett's oesophagus, a potentially preneoplastic condition.

Barrett Esophagus↗
PubMed1997

Risk factors and physiopathology of candidiasis.

Recent epidemiological surveys have demonstrated an important increase in nosocomial infections among which Candida sp. plays an increasingly prominent role. Candida is now involved in about 10% of all septicemia and leads to a very high mortality rate in immunodepressed patients. Clinical studies show that any modification of the host immune status can facilitate the proliferation of endogenous Candida which, according to the importance of the immune deficiency, can provoke diseases ranging from benign localized mucocutaneous candidosis to sometimes lethal systemic invasions. The pathogenic behavior of Candida cells is mainly due to a very high phenotypic biodiversity. Following even very slight environmental modifications, it may change its behavior through the appearance of new or amplified properties such as tube formation, adherence, protease secretion, etc. Together with the impairment of host defenses, these new invasive properties lead to the so-called opportunistic pathogenicity of Candida cells. From a host point of view, after the integrity of surface teguments, the mucosal protection is ensured by the Th1 "cellular" immune response which, through pro-inflammatory cytokine production, boosts the efficacy of the phagocytes (Polymorphonuclear cells and macrophages). Neutrophils are of particular importance as deep seated Candida proliferation is mostly associated with neutropenia. Whatever the pathogenic process, it is mostly due to modifications provoked by increasing medical awareness which makes patients more susceptible to illness. A better knowledge of the precise mechanisms involved and would lead to improved strategies for prevention.

Journal Article↗
PubMed1996

Myxofibrosarcoma. Clinicopathologic analysis of 75 cases with emphasis on the low-grade variant.

Myxofibrosarcoma is one of the most common sarcomas in the extremities of elderly patients. We analysed the clinicopathologic features in a series of 75 patients. All patients were adults (range, 22-91 years; median, 66 years) with an approximately equal incidence in men and women. Thirty-five tumors arose in the lower and 25 in the upper extremities, nine on the trunk, two each in the retroperitoneum and the head and neck region, and one each in the pelvis and penis. Forty-eight cases (69.5%) were located in dermal or subcutaneous tissues. Distinctive histologic features included the following: a commonly nodular growth pattern; a myxoid matrix containing elongated, curvilinear capillaries; and fusiform, round or stellate tumor cells with indistinct cell margins, slightly eosinophilic cytoplasm, and hyperchromatic atypical nuclei. These lesions varied from a hypocellular, mainly myxoid, and purely spindle-cell appearance (low-grade neoplasms) to high-grade, pleomorphic (malignant fibrous histiocytoma-like) lesions with multinucleated giant cells, high mitotic activity, and areas of necrosis. Immunohistochemistry in 44 cases revealed only vimentin and occasional actin positivity. Ultrastructurally, tumor cells had a fibroblastic phenotype. DNA flow cytometry and proliferation analysis showed an association between aneuploidy and histologic grade. An average follow-up of 45 months (range, 5-300 months) in 60 cases has revealed local recurrence in 33 cases (54%). Thirteen patients developed metastases, and 13 tumor-related deaths occurred. A short interval to first local recurrence was associated with poor clinical outcome. The rate of local recurrence was independent of histologic grade, but only intermediate and high-grade neoplasms metastasized. The depth of the primary lesion did not influence the incidence of local recurrence. However, in deep-seated neoplasms, the incidence of metastases was higher and the percentage of tumor-related deaths was twice as high as in superficially located lesions, reflecting the fact that deep-seated lesions tended to be higher-grade, larger tumors. Myxofibrosarcoma tends to become progressively higher grade in recurrences, as demonstrated in five cases in our series. The poorly recognized low-grade myxofibrosarcoma is emphasized, as proper diagnosis and treatment and scrupulous follow-up are mandatory to avoid local recurrence and gradual tumor progression to a higher-grade neoplasm that may then metastasize.

Adult↗
PubMedDate not supplied

Genetic analysis of the black pigment mutation in the Mongolian gerbil.

The black pigment mutation of the Mongolian gerbil is inherited as an autosomal recessive and is not linked to the pigment mutation spotted (Sp). Black gerbils have deep glossy black coats, yellow perineal hairs, and small white patches under the chin and across the front feet. The black hairs are pigmented entirely with eumelanin including numerous cortical granules. The similarities between the black gerbil mutant and various black pigment mutations in mice area discussed.

Animals↗
PubMed1999

Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.

Split-hand/split-foot malformation (SHFM, ectrodactyly, or lobster-claw deformity) is a human limb malformation characterized by aberrant development of central digital rays with absence of fingers and toes, a deep median cleft, and fusion of remaining digits. SHFM is clinically heterogeneous, presenting both in an isolated form and in combination with additional abnormalities affecting the tibia and/or other organ systems, including the genitourinary, craniofacial, and ectodermal structures. Three SHFM disease loci have been genetically mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q24 (SHFM3). We mapped data from a large Turkish family with isolated SHFM to chromosome 10q24 and have narrowed the SHFM3 region from 9 cM to an approximately 2-cM critical interval between genetic markers D10S1147 and D10S1240. In several instances we found evidence for a more severe phenotype in offspring of a mildly affected parent, suggesting anticipation. Finally, data from this family, combined with those from six other pedigrees, mapped to 10q24, demonstrate biased transmission of SHFM3 alleles from affected fathers to offspring. The degree of this segregation distortion is obvious in male offspring and is possibly of the same magnitude for female offspring.

Chromosome Mapping↗
PubMed2005

A role for adenosine deaminase in Drosophila larval development.

Adenosine deaminase (ADA) is an enzyme present in all organisms that catalyzes the irreversible deamination of adenosine and deoxyadenosine to inosine and deoxyinosine. Both adenosine and deoxyadenosine are biologically active purines that can have a deep impact on cellular physiology; notably, ADA deficiency in humans causes severe combined immunodeficiency. We have established a Drosophila model to study the effects of altered adenosine levels in vivo by genetic elimination of adenosine deaminase-related growth factor-A (ADGF-A), which has ADA activity and is expressed in the gut and hematopoietic organ. Here we show that the hemocytes (blood cells) are the main regulator of adenosine in the Drosophila larva, as was speculated previously for mammals. The elevated level of adenosine in the hemolymph due to lack of ADGF-A leads to apparently inconsistent phenotypic effects: precocious metamorphic changes including differentiation of macrophage-like cells and fat body disintegration on one hand, and delay of development with block of pupariation on the other. The block of pupariation appears to involve signaling through the adenosine receptor (AdoR), but fat body disintegration, which is promoted by action of the hemocytes, seems to be independent of the AdoR. The existence of such an independent mechanism has also been suggested in mammals.

Adenosine↗
PubMedDate not supplied

Intracranial neurothekeoma--a rare parenchymal nerve sheath myxoma of the middle cranial fossa.

Neurothekeomas are rare, benign nerve sheath tumors, usually arising from cutaneous nerves in the head and neck region. So far, only 4 cases of the intracranial counterpart have been reported and these were located in the posterior fossa, sellar and parasellar region. We report here the first case of neurothekeoma located deep inside the brain parenchyma. Histologically, the tumor had lobular appearance with bland morphology in spite of cellular pleomorphism, myxoid background and variable S-100 positivity, characteristics of neurothekeomas. The schwannian origin was further confirmed ultrastructurally by demonstrating basal lamina and Luse bodies. Because of its benign nature, the lesion does not need postoperative radiotherapy. Histogenesis of neurothekeoma arising in the parenchyma remains enigmatic. The probable cell of origin could be the Schwann cell or perineurial cell of the nerve twigs around the blood vessels or by extreme differentiation of the precursor cell resting in a suitable microenvironment to the schwannian phenotype.

Adolescent↗
PubMed2007

De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies.

Reports of small proximal 1q duplications are rare. We report a 1 month-old female who was referred to clinic because she was believed to have features suggestive of Turner syndrome. The patient's dysmorphic features included a prominent nose, low-set and crumpled ears, slightly high palate, short neck, high-pitched cry, mild micrognathia, hypoplastic labia majora, and somewhat deep palmar creases. Traditional G-band chromosome studies of the patient were interpreted as 46,XX,dup(1)(q12q21). To further evaluate the extent of the chromosome 1 duplication, Spectral Karyotyping and a series of six fluorescence in situ hybridization (FISH) probes were utilized. The FISH probes refined the extent of the duplication to involve the region 1(q12q22) indicating the duplicated segment was larger than interpreted by the G-banding studies. This first case of non-mosaic proximal duplication of 1q to be characterized by multiple locus specific FISH probes should allow a more refined delineation of the phenotypic findings and clinical significance associated with this rare chromosomal duplication.

Abnormalities, Multiple↗