Trisomy Disorders

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

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.

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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

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

An Pediatr (Barc). 2008 Mar

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

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The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18

Am J Med Genet A. 2008 Feb 4

Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St. Bartholomew's and the London, Queen Mary's School of Medicine and Dentistry, Charterhouse Square, London, UK.

email: Joan K. Morris (j.k.morris@qmul.ac.uk)

*Correspondence to Joan K. Morris, Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St Bartholomew's and the London, Queen Mary's School of Medicine and Dentistry, Charterhouse Square, London EC1M 6BQ, UK.

The objective of this study is to determine the risk of fetal loss (spontaneous abortion or stillbirth) following a prenatal diagnosis of trisomy 13 (T13; Patau syndrome) or trisomy 18 (T18; Edwards syndrome). Five regional congenital anomaly registers in England and Wales provided details on the outcomes of 198 pregnancies prenatally diagnosed with T13 and 538 prenatally diagnosed with T18. For each pregnancy the time from prenatal diagnosis until birth, miscarriage or termination occurred was calculated and these times were analyzed using Kaplan-Meier survival functions. Our results showed that between 12 weeks gestation and term an estimated 49% (95% CI: 29-73%) of pregnancies diagnosed with T13 and 72% (61-81%) of pregnancies diagnosed with T18 ended in a miscarriage or stillbirth. Between 18 weeks and term the proportions were 42% (18-72%) for T13 and 65% (57-79%) for T18 and between 24 weeks and term the proportions were 35% (5-70%) for T13 and 59% (49-77%) for T18. Male fetuses with T18 appeared to be more likely to be lost than female fetuses. These are the most precise estimates currently available for the risk of loss in a general population. These estimates should be useful in counseling women who are carrying an affected fetus and knowing the risk of fetal loss is essential to compare the performance of prenatal screening programs occurring in the first and second trimester.

2008 Wiley-Liss, Inc.

Tags: Trisomy 13, Trisomy 18, Edwards Syndrome, Patau Syndrome, fetal loss, prenatal diagnosis

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Knoxville baby struggles with rare disorder

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Trisomy 6 in a CML patient receiving imatinib mesylate therapy

Leuk Res. 2008 Feb 20

Adriana Z, Soad AB, Pandita R.

Department of Hematology, Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Kuwait.

The emergence of chromosome abnormalities in Philadelphia-negative cells in chronic myelogenous leukemia patients during imatinib therapy have been described by several authors. While these abnormalities are frequently transient, in rare instances they may be presented on repeated occasions suggesting the possibility of the development of a new malignant clone. We describe a patient with Philadelphia chromosome-positive chronic myelogenous leukemia diagnosed in 1998, in whom multiple clonal abnormalities were identified in Ph-negative cells while on imatinib therapy. The patient developed lymphoid blast crisis associated with an additional Ph chromosome and trisomy 6 in Ph-negative cells. Our results further reinforce the importance of serial chromosomal studies in patients receiving new therapies which may ultimately lead to alternative therapies

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Children with Down Syndrome Do Not Benefit From Antioxidants

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A voice for Veronica

Featured Photo: Ronnie, Christina and Veronica Cummings

By Roslyn Ryan, Media General News Service

March 2 event will benefit child born with rare chromosome disorder

Veronica Cummings is a special child, and no one knows that better than her mother, Christina Cummings.

Christina and her husband Ronnie have been watching their daughter’s struggle against Trisomy 13, a rare chromosome disorder, since the day she was born.

Those affected by Trisomy 13 can suffer a range of problems including skeletal deformities and mental retardation.

Doctors initially advised Veronica’s parents that she would most likely succumb to the disorder, which affects approximately one out of every 10,000 births, within two days.

That was over a year ago. 

Though Veronica is only now beginning to chew and attempt to crawl, her mother says she continues to amaze her doctors.
“She’s doing wonderfully,” said Christina. 

Veronica’s parents have done managed to hold on to hope in the face of grim odds, and now they are trying to reach out to other parents of children with the disorder.

Christina said she knew she had Veronica that she wanted to do something to raise awareness of the disorder, said Cummings, but caring for the baby and her two-year-old sister Ava left her little spare time.

That’s where Jessica Menz-Crenshaw came in.

She and Cummings had gone to high school together, and had remained close after graduation. When Menz-Crenshaw saw what her friend was going through, she knew she wanted to help. 

Menz-Crenshaw, the owner of La Bella Hair Studio in Richmond, founded Veronica’s Vioce, a charity dedicated to raising awareness of chromosomal disorders and helping those affected by them.

On March 2, as part of the salon’s two year anniversary, Menz-Crenshaw and her staff will be holding a cut-a-thon and a silent auction to benefit Veronica’s Voice.
“I just wanted to raise awareness and offer support,” said Menz-Crenshaw, who will donate 100 percent of the profits from the event to the charity.

To Christina Cummings, her friend’s work has been a blessing.

“Jessica just took the thought I had and ran with it,” said Christina. “She knew it was something I wanted to do couldn’t.”
For more information on the cut-a-thon, contact La Bella Hair Studio at 285-2490 or visit www.mylabella.com.
 
Roslyn Ryan is editor of The Powhatan Today, a Richmond Suburban Newspaper 

Midlothian Exchange

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Chromosome 17 and 21 aneuploidy in buccal cells is increased with ageing and in Alzheimer's disease

Mutagenesis. 2008 Jan

Thomas P, Fenech M.

CSIRO Human Nutrition, PO Box 10041, Adelaide BC, Adelaide, South Australia 5000, Australia.

* To whom correspondence should be addressed. Tel: +61 8 303 8897; Fax: +61 8 303 8899

philip.thomas@csiro.au

Alzheimer's disease (AD) is a premature ageing syndrome characterized by cognitive impairment arising from neuropathological changes occurring within specific areas of the brain. We report a 1.5-fold increase in trisomy 21 (P < 0.001) and a 1.2-fold increase in trisomy 17 (P < 0.001) in buccal cells of Alzheimer's patients compared to age- and gender-matched controls.

Chromosome 17 and chromosome 21 monosomy and trisomy increase significantly with age (P < 0.001). Down's syndrome, which exhibits similar neuropathological features to those observed in AD also showed a strong increase in chromosome 17 monosomy and trisomy compared to matched controls (P < 0.001). These results suggest that an increased incidence of aneusomy for both chromosomes 17 and 21 may contribute to the aetiology of AD. We also investigated aneuploidy rates in hippocampal brain cells, which have been shown to have a low rate of cell division, which may be relevant in potential incidence of non-disjunction.

However, aneuploidy rate for chromosomes 17 and 21 in the nuclei of hippocampus cells of brains from Alzheimer's patients and controls were not significantly different. These results are suggestive that the aneuploidy events investigated which are increased beyond the incidence in normal ageing may be influenced by genetic factors that may predispose to AD, but are unlikely to be a primary cause of AD brain pathology.

Oxford Journal

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Can we improve the content and quality of information delivered prior to amniocentesis?]

Harefuah. 2008 Jan

Malkiel A, Granat M, Sagi M, Brezis M.

Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem. malkiel.avishay@gmail.com

INTRODUCTION: Amniocentesis is a procedure often used for pregnant women, as an important tool to identify chromosomal abnormalities, trisomy 21 being the main one. Amniocentesis may involve certain possible complications, the most prevalent is miscarriage. In order to make an informed decision, a woman must understand some statistical information regarding the risks and benefits of management options.

OBJECTIVES: The objective of this work was to examine women's understanding of risks and benefits before amniocentesis and the effect of an educational intervention on this understanding.

METHODS: Women applying for amniocentesis at Hadassah Ein-Kerem clinics were handed a questionnaire. The questionnaire examined several aspects of knowledge relevant to an informed decision about the amniocentesis. An intervention was designed to improve women's understanding before amniocentesis: an information handout was sent home to 48 women who had signed up for amniocentesis. The level of knowledge was compared between women who did and did not receive the information handout.

RESULTS: There was no difference in the level of general understanding between the two groups. When the level of understanding was broken down to its specific components, it became apparent that the only improvement achieved was concerning the risk of miscarriage from the amniocentesis.

CONCLUSIONS: Information delivered before amniocentesis is challenging and further research is needed in order to develop educational material that would improve women's understanding of risks and benefits of the procedure.

PubMed

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