Trisomy Disorders

Down syndrome and the enteric nervous system.

Sat, 19 Jul 2008 05:41:54 GMT

Down syndrome and the enteric nervous system.

Pediatr Surg Int. 2008 Jul 17

Division of Paediatric Surgery, Department of Surgical Sciences, Faculty of Health Sciences, University of Stellenbosch, P.O. Box 19063, Tygerberg, 7505, South Africa, swm@sun.ac.za.

Down syndrome (DS) is the most common chromosomal abnormality occurring in humans. Up to 77% of DS children have associated gastrointestinal (GI) abnormalities, which may be structural or functional in nature. Functional disturbances may, in turn, affect the outcome of corrective surgical procedures, prompting to caution. It is becoming clear that the processes affecting the enteric nervous system (ENS) in DS not only affect the micro-anatomy but also nerve function, and there is some histological evidence of ENS variations in both human and DS animal models. This suggests that developmental disorders of the ENS are probably fundamental to the functional GI disturbances encountered in patients with DS. The anomalous brain development, function and resulting intellectual impairment associated with DS appears to result from the genetic imbalance created by the trisomy of chromosome 21. The possible links between the brain, GI and ENS involvement are not as yet entirely clear. Neurotropic factors affecting brain development during embryogenesis are probably interlinked with ENS development, but the precise mechanism of how this occurs has yet to be established. This study explores what is known about the ENS dysfunction in DS and reviews the possible importance of chromosome 21 located and other genes in its etiology. Functional motor disturbances of the esophagus and colon are not uncommonand may be congenital or acquired in nature. The most prominent of these include esophageal dysmotility syndromes (e.g. achalasia, gastroesophageal reflux, dysphagia) as well as a higher incidence of chronic constipation and Hirschsprung's disease (HSCR) (2-15%) occurring in association with DS. Chromosome 21 itself is thought to be the site of a modifier gene for HSCR. Recently identified candidate genetic mechanisms provide unique insights into the genetic background of the neurological and cognitive disorders associated with DS. Although the role of the triplicated chromosome 21 and genetic dosage remain important, the additional role of other chromosome 21 genes in the etiology of ENS developmental anomalies remains undetermined and requires ongoing research.

SpringerLink

Tags: Down syndrome; enteric nervous system; chromosomal abnormality; Chromosome 21;achalasia, gastroesophageal reflux, dysphagia

Two cases of trisomy 19 as a sole chromosomal abnormality in myeloid disorders.

Sun, 13 Jul 2008 12:49:10 GMT

Two cases of trisomy 19 as a sole chromosomal abnormality in myeloid disorders.

Korean J Lab Med. 2008 Jun

Jung SI, Cho HS, Lee CH, Kim KD, Ha JO, Kim MK, Lee KH, Hyun MS.

Department of Laboratory Medicine, Yeungnam University College of Medicine, Daegu, Korea.

Trisomy 19 is frequently encountered in cases of chronic myeloid leukemia (CML) as a secondary abnormality: however, trisomy 19 rarely occurs as a sole chromosomal abnormality and, to date, it has only been reported in 48 hematopoietic malignancies, 1 case of adenocarcinoma and 1 case of astrocytic tumor. Here, we report two additional cases of trisomy 19 as a sole karyotypic aberration in myeloid malignancies. One of these cases involved a 6-month-old male who was diagnosed with acute myeloid leukemia minimally differentiated. His karyotype was 47,XY,+19[20]. He expired 5 days after diagnosis. Another case occurred in an 80-yr-old female who had refractory anemia with excess blasts. Her karyotype was 47,XX,+19[16]/46,XX[4]. Four months later, her peripheral blood smears suggested that the disease had progressed, but she refused further evaluation. Based on a review of the existing literature and the results of this report, trisomy 19 not only as a secondary abnormality but also as a sole karyotypic aberration is strongly associated with myeloid disorder; however, it is not preferentially found in specific FAB subgroups of myelodysplasic syndrome or acute myeloid leukemia.

Korean Society for Laboratory Medicine

Tags: trisomy 19, myeloid disorders, chromosomal abnormality, karyotype, myeloid malignancies

Gene expression variation increase in trisomy 21 tissues.

Sun, 13 Jul 2008 12:46:00 GMT

Gene expression variation increase in trisomy 21 tissues.

Mamm Genome. 2008 Jul

Chou CY, Liu LY, Chen CY, Tsai CH, Hwa HL, Chang LY, Lin YS, Hsieh FJ.

Department of Obstetrics and Gynecology, Cathay General Hospital, Taipei, Taiwan.

Congenital development disorders with variable severity occur in trisomy 21. However, how these phenotypic abnormalities develop with variations remains elusive. We hypothesize that the differences in euploid gene expression variation among trisomy 21 tissues are caused by the presence of an extra copy of chromosome 21 and may contribute to the phenotypic variations in Down syndrome. We used DNA microarray to measure the differences in gene expression variance between four human trisomy 21 and six euploid amniocytes. The three publicly available data sets of fetal brains, adult brains, and fetal hearts were also analyzed. The numbers of euploid genes with greater variance were significantly higher in all four kinds of trisomy 21 tissues (p < 0.01) than in the corresponding euploid tissues. Seventeen euploid genes with significantly different variance between trisomy 21 and euploid amniocytes were found using the F test. In summary, there is a set of euploid genes that shows greater variance of expression in human trisomy 21 tissues than in euploid tissues. This change may contribute to producing the variable phenotypic abnormalities observed in Down syndrome.

Springerlink

Tags: gene expression, trisomy 21; Down Syndrome

Unusual Clinical History of a Male Infant with Edwards Syndrome.

Fri, 27 Jun 2008 01:54:25 GMT

Unusual Clinical History of a Male Infant with Edwards Syndrome.

Pathol Oncol Res. 2008 Jun 25.

Surányi A, Bitó T, Vajda G, Kaiser L, Gáspár G, Katona M, Szabó J, Pál A.

Department of Obstetrics and Gynaecology, University of Szeged, Szeged 6725, Semmelweis u. 1. Pf.: 438, Szeged, Hungary.

Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias and genital hypoplasia. We report a male patient with Edwards syndrome. The boy had a partial agenesis of corpus callosum, oesophageal atresia with tracheo-oesophageal fistula, renal agenesis, ventricular septal defect, Dandy-Walker cyst and low-set malformed ears. The first three features are unique based on previous literature reports on trisomy 18. This report allows a further delineation of the trisomy 18 syndrome.

PubMed

Tags: trisomy 18; ventricular septal defect; facial clefts;horseshoe kidneys; oesophageal atresia; omphalocele; diaphragmatic hernias; genital hypoplasia

Behçet disease associated with myelodysplastic syndrome and Trisomy 8.

Tue, 10 Jun 2008 10:07:06 GMT

Behçet disease associated with myelodysplastic syndrome.

J Clin Rheumatol. 2008 Jun

Lin YC, Liang TH, Chang HN, Lin JS, Lin HY.

Section of Allergy, Immunology and Rheumatology, Department of Medicine, Taipei Medical University, Taiwan.

There have been 22 reported cases of Behçet disease associated with myelodysplastic syndrome. The majority of cases belong to incomplete types of Behçet disease and the refractory anemia subtype of myelodysplastic syndrome. We describe a case of a 49-year-old woman with Behçet disease who developed myelodysplastic syndrome with abnormal karyotype-trisomy 8. This change was not due to immunosuppressive agents because her Behçet disease was not treated with these drugs before the onset of myelodysplastic syndrome. This is the first report of a case of Behçet disease with pathologic evidence associated with the chronic myelomonocytic leukemia subtype of myelodysplastic syndrome. After reviewing the past case studies, we suggest that patients with myelodysplastic syndrome and trisomy 8 might be prone to have Behçet disease. Furthermore, more intestinal ulcers but with less eye lesions and arthritis have been noted in patients of Behçet disease with myelodysplastic syndrome than in those without myelodysplastic syndrome.

Lippincott, Williams & Wilkins

Tags: Myelodysplastic Syndrome, Behcet Disease, trisomy 8, chronic myelomonocytic leukemia, , intestinal ulcers

Sun, 01 Jun 2008 18:47:39 GMT

Good afternoon ya'll.

I wanted to let everyone know that we have brand new forums on Lymphedema People.

If you have the forums page saved on your PC, you'll need to "refresh" your page.

Important - if you were a member of the old forums, you were automatically transferred to the new ones - and all you have to do is sign on like you normally do.

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Look down the page a little bit and you'll see "Forums" just click on that link and you'll be taken there.

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The new forums tie in directly with the new Wiki - making them more integrated and will in the long term make things better.

Thanks!!!!

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The forums also offer the largest single site on information for lymphatic conditions not only in English, but in French and Spanish as well.

Pat

Tags: lymphedema, lymphatic conditions, forums, information, community, online support group

Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy

Wed, 14 May 2008 10:31:44 GMT

Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy

Int Arch Med. 2008 Apr

Ribacoba R, Menendez-Gonzalez M, Hernando I, Salas J, Giros ML.

ABSTRACT: The partial trisomy 13q.22 is an uncommon chromosomopathy. We present a case with a partial trisomic component 13q22 and a monosomic component 5p15 from paternal origin. This patient developed early menopause and major neurological disorders as leukoencephalopathy, late onset generalised epilepsy and stroke. She also had fatty acids disturbances and their potential relation to the neurological disorders and early menopause is discussed. The presented case illustrates the phenotype of 13q22-qter in adult age and reaffirms the importance of studying the karyotype of any patient with seizures or leukoencephalopathy particularly when there are associated other clinical features including stroke, fatty acids disturbances, microcephaly, hypotelorism, short neck, hemangiomata, short fingers or distal swell in thumbs.

International Archives of Medicine

Tags: Partial trisomy 13q22; leukoencephalopathy; epilepsy; microcephaly

An uncommon presentation of stroke in a child with trisomy 21.

Tue, 22 Apr 2008 14:34:25 GMT

An uncommon presentation of stroke in a child with trisomy 21.

Pediatr Emerg Care. 2008 Apr

Boggs S, Hariharan SL.

Department of Pediatrics, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA.

A 3-year-old boy was presented to the emergency department with fever and refused to bear weight on his left leg. Evaluation leads to the eventual diagnosis of stroke secondary to moyamoya syndrome. This is an unusual presentation of stroke and highlights the need to expand the differential diagnosis of common presentations to include rare diseases in children with predisposing conditions. We explore the relationship between trisomy 21 and moyamoya syndrome and then briefly discuss strokes in childhood.

Lippincott, Williams & Wilkins

Tags: trisomy 21, turner syndrome, stroke, moyamoya syndrome,

Jugular lymphatic maldevelopment in Turner syndrome and trisomy 21

Tue, 22 Apr 2008 14:30:56 GMT

Jugular lymphatic maldevelopment in Turner syndrome and trisomy 21: different anomalies leading to nuchal edema.

Reprod Sci. 2008 Apr

Bekker MN, van den Akker NM, de Mooij YM, Bartelings MM, van Vugt JM, Gittenberger-de Groot AC.

Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, the Netherlands.

Increased nuchal translucency (NT), morphologically known as nuchal edema, is an ultrasound marker for aneuploidy. Turner syndrome presents with massive NT, called cystic hygroma. Conflicting data exist as to whether cystic hygroma and increased NT are different entities. Both are associated with jugular lymphatic distension. The authors investigated jugular lymphatics of trisomy 21, Turner syndrome, and normal karyotype fetuses. Fetuses were investigated using immunohistochemistry for blood vascular, lymphatic, and smooth muscle cell markers. Trisomy 21 fetuses showed nuchal cavities within the mesenchymal edema negative for endothelial markers. These were extremely large in Turner fetuses, showing similar characteristics. The skin showed numerous dilated lymphatics in the case of trisomy 21 and scanty small lymphatics in Turner fetuses. A jugular lymphatic sac was present in control and trisomy 21 fetuses and was enlarged in trisomy 21 cases. In Turner fetuses, no jugular lymphatic sac was observed. Nuchal edema in trisomy 21 and Turner syndrome appears to be a similar entity caused by different lymphatic abnormalities.

Sage Publications
Tags: trisomy 21, Turner Syndrome, lymph system, lymphatic development, Nuchal translucency • nuchal edema • cystic hygroma, pathophysiology, jugular lymphatic sac, monosomy x

Mosaic trisomy 9: report of a new case with a long-term survival.]

Sat, 29 Mar 2008 02:20:21 GMT

Mosaic trisomy 9: report of a new case with a long-term survival.

An Pediatr (Barc). 2008 Mar

Sánchez Zahonero J, Andrés Celma M, López García MJ.

Servicio de Pediatría. Hospital Clínico Universitario de Valencia. España. jusanza@alumni.uv.es.

INTRODUCTION: Trisomy 9 is an uncommon chromosome abnormality that may be seen in a mosaic or non-mosaic state.

OBJECTIVE: To better define the phenotype and prognosis of this disorder we report a new case of mosaic trisomy 9 with a long-term survival.

CLINICAL REPORT: We present the case of a female patient, born from the first pregnancy of a healthy couple. Fetal ultrasounds disclosed intrauterine growth retardation and oligohydramnios. Cesareansection was performed in the 34th week. Birth weight was 1,478 g. Neonatal examination showed: dolichocephaly; hypotelorism, microphthalmia, short palpebral fissures; broad-based nose with bulbous tip; micrognathia; low-set malformed ears; abnormal hands and feet; no other malformations. The initial karyotype determination was normal (46,XX). At 17 months of age, a second karyotype was requested because the patient developed severe psychomotor retardation. Chromosome analysis showed mosaic trisomy 9 (46,XX/47,XX, + 9). Six months later, a single upper central incisor was noted. To our knowledge, this feature has not been reported previously in the trisomy 9. The patient is now 4 years old. She shows severe psychomotor retardation, but no other complications.

COMMENTS: It is important to be aware of the possibility that mosaicism may exist in a patient with normal blood karyotype and abnormal phenotype. We conclude that a great number of cells is needed in order to obtain a correct karyotype diagnosis. Correct diagnosis is essential to define the prognosis and provide accurate genetic counselling.

Annals of Pediatrics

Tags: Mosaic trisomy 9, Chromosome analysis, karyotype diagnosis, dolichocephaly; hypotelorism, microphthalmia, short palpebral fissures, Aneuploidy. Chromosome abnormality.