Down Syndrome, Molecular Genetics Of Clinical Findings

10.5580/2b21 ◽  
2012 ◽  
Vol 6 (2) ◽  
Keyword(s):  
Down Syndrome ◽  
Molecular Genetics ◽  
Clinical Findings

The Molecular Genetics of Down Syndrome

1992 ◽  
pp. 105-120 ◽  
Author(s):  
David M. Holtzman ◽  
Charles J. Epstein
Keyword(s):  
Down Syndrome ◽  
Molecular Genetics

scholarly journals Cytogenetic findings at Down syndrome and their correlation with clinical findings

2005 ◽  
Vol 5 (4) ◽  
pp. 61-67
Author(s):  
Amra Ćatović ◽  
Sulejman Kendić
Keyword(s):  
Down Syndrome ◽  
Retrospective Study ◽  
Clinical Findings ◽  
Chromosome 21 ◽  
Female Patients ◽  
Male Patients

Down syndrome is a genetic state characterized by trisomy of chromosome 21. In the retrospective study for 12 years period (1991-2002) we have conducted correlation between cytogenetics analyses and clinical findings in our centre at 96 male and 83 female patients. Down syndrome was confirmed by cytogenetics analyses in 84 (87.5%) male patients and excluded in 12 (12.5%) male patients. Most common karyotype is free trisomy found in 139 (89.7%) examinees, than follows translocation form determined in 9 (5.8%), and mosaicism determined in 7 (4.5%) examinees. Our results indicate that cytogenetics analyses are necessary to confirm diagnosis of Down syndrome.

Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens

2002 ◽  
Vol 104 (2) ◽  
pp. 179-187 ◽  
Author(s):  
Christian Hagel ◽  
Matthias Lindenau ◽  
Katrin Lamszus ◽  
Lan Kluwe ◽  
Dimitrios Stavrou ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Sural Nerve ◽  
Nerve Biopsy ◽  
Clinical Findings ◽  
Sural Nerve Biopsy ◽  
Neurofibromatosis 2 ◽  
Biopsy Specimens

scholarly journals Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971

Blood ◽  
2011 ◽  
Vol 118 (26) ◽  
pp. 6752-6759 ◽  
Author(s):  
Alan S. Gamis ◽  
Todd A. Alonzo ◽  
Robert B. Gerbing ◽  
Joanne M. Hilden ◽  
April D. Sorrell ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Natural History ◽  
Trisomy 21 ◽  
Myeloid Leukemia ◽  
Clinical Findings ◽  
Myeloproliferative Disorder ◽  
Spontaneous Resolution ◽  
Transient Myeloproliferative Disorder ◽  
Life Threatening ◽  
History Of

Abstract Transient myeloproliferative disorder (TMD), restricted to newborns with trisomy 21, is a megakaryocytic leukemia that although lethal in some is distinguished by its spontaneous resolution. Later development of acute myeloid leukemia (AML) occurs in some. Prospective enrollment (n = 135) elucidated the natural history in Down syndrome (DS) patients diagnosed with TMD via the use of uniform monitoring and intervention guidelines. Prevalent at diagnosis were leukocytosis, peripheral blast exceeding marrow blast percentage, and hepatomegaly. Among those with life-threatening symptoms, most (n = 29/38; 76%) received intervention therapy until symptoms abated and then were monitored similarly. Organomegaly with cardiopulmonary compromise most frequently led to intervention (43%). Death occurred in 21% but only 10% were attributable to TMD (intervention vs observation patients: 13/14 vs 1/15 because of TMD). Among those solely observed, peripheral blasts and all other TMD symptoms cleared at a median of 36 and 49 days from diagnosis, respectively. On the basis of the diagnostic clinical findings of hepatomegaly with or without life-threatening symptoms, 3 groups were identified with differing survival: low risk with neither finding (38%), intermediate risk with hepatomegaly alone (40%), and high risk with both (21%; overall survival: 92% ± 8%, 77% ± 12%, and 51% ± 19%, respectively; P ≤ .001). Among all, AML subsequently occurred in 16% at a median of 441 days (range, 118-1085 days). The trial is registered at http://www.clinicaltrials.gov as NCT00003593.

scholarly journals Musculoskeletal anomalies in children with Down syndrome: an observational study

2018 ◽  
Vol 104 (5) ◽  
pp. 482-487 ◽  
Author(s):  
Charlene Foley ◽  
Orla G Killeen
Keyword(s):  
Down Syndrome ◽  
Observational Study ◽  
Muscle Tone ◽  
Significant Proportion ◽  
Delayed Diagnosis ◽  
Clinical Findings ◽  
Pes Planus ◽  
Increased Risk ◽  
Musculoskeletal Problems ◽  
National Cohort

BackgroundMusculoskeletal complications of Down syndrome (DS) are common but infrequently reported. The combination of ligamentous laxity and low muscle tone contributes to increased risk of a number of musculoskeletal disorders and a delay in acquisition of motor milestones. The primary aim of this study was to describe musculoskeletal anomalies reported in a national cohort of children with DS.MethodsThis was an observational study. Children with DS, aged 0–21 years, were invited to attend a musculoskeletal assessment clinic conducted by a paediatric physician. Relevant musculoskeletal history and clinical findings were documented.ResultsOver an 18-month period, 503 children with DS were examined (56% male). The median age was 8.1 years (0.6–19.2). Pes planus was almost universal, occurring in 91% of the cohort. A range of other musculoskeletal anomalies were observed, with inflammatory arthritis (7%) and scoliosis (4.8%) occurring most frequently after pes planus. Delay in ambulation was common; the median age to walk was 28 months (12–84).ConclusionChildren with DS are at increased risk of a number of potentially debilitating musculoskeletal problems. These conditions can present in variable manners or be completely asymptomatic. Pes planus is common; therefore, early consideration of orthotics and lifelong appropriate supportive footwear should be considered. Delayed ambulation is frequently noted. A significant proportion of children with DS have arthritis; however, despite a high prevalence, it is often missed, leading to delayed diagnosis. An annual musculoskeletal assessment for all children with DS could potentially enable early detection of problems, allowing for timely multidisciplinary team intervention and better clinical outcomes.

Sign in / Sign up

Export Citation Format

Share Document