To present the prenatal findings and molecular cytogenetic analyses of partial trisomy 12q and partial monosomy 21q, and a review of the literature. [ncbi.nlm.nih.gov]

On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery, are [icd10data.com]

She presented thelarche and pubarche at the age of 13 and familial history of delayed puberty was reported in the paternal pedigree. [molecularcytogenetics.biomedcentral.com]

Genetic counseling The risk of having another affected child is higher if a chromosomal rearrangement is present in one of the parents. [orpha.net]

• Fishing

  Fluorescence in situ hybridization (FISH) and polymorphic DNA markers were used to investigate the involved chromosomal segments. [ncbi.nlm.nih.gov]

  Detection of this aberration in successive pregnancies of carrier members of the family by prenatal FISH could prevent the recurrence of the disease. [scienceopen.com]

  In a study including Chinese patients with CML, Philadelphia positive cases (70.4%) demonstrated typical FISH pattern; 29.6% had atypical FISH pattern with 12 different types [12]. [file.scirp.org]

  The abnormality was detected by CBA±FISH in 440 (93.4%) and by FISH only in 31 (6.6%). In the latter cases, the CBA was either unsuccessful or showed a normal karyotype. [bloodjournal.org]

• Epilepsy

  He did not resemble his affected niece, who was more severely retarded, had serious epilepsy, but lacked the facial dysmorphism. [ncbi.nlm.nih.gov]

  Benign epilepsy of childhood with occipital paroxysms (BECOP). Benign Myoclonic Epilepsy in Infancy (BMEI) Benign Neonatal Convulsions (BNC) Benign nonprogressive familial chorea Benign Rolandic Epilepsy (BRE). [neurometplus.com]

  The role of this gene in epilepsy needs larger study on selected samples. [omicsonline.org]

  Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. Am J Med Genet A. 2013;161A(7):1722–5. [molecularcytogenetics.biomedcentral.com]

• Weight Gain

  Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. About 1 in 10,000 babies are born with Prader-Willi syndrome. [natera.com]

• Coarctation of the Aorta

  Of The Aorta Left Heart Hypoplasia Thickening Of Cardiac Valves Neck Short Neck With Anterior Webbing Muscles Hypertonia Or Hypotonia Nervous System Thinor Absent Corpus Callosum Gastrointestinal System Anterior Displacement Of The Anus With Vagino-Anal [neo-genetics.com]

• Failure to Thrive

  To Thrive Heredity Deletions Include Q11-1, Q11-1-Q22-1, Q11-2-Q21-3, Q21-1.2, Q22-1 And Q22-2 Nose Large Nose With A Broad Bridge And Epicanthic Folds Cardiovascular System Ventricular And Atrial Septal Defects Coarctation Of The Aorta Left Heart Hypoplasia [neo-genetics.com]

If, on the other hand, the family comes to clinical attention because of multiple miscarriages, or as part of an infertility workup, then the unbalanced translocation karyotype is probably not compatible with life and the risk of abnormal offspring is [sapientfridge.org]

These include the ras homolog gene family member H. [10] Treatment [ edit ] No curative treatment against EV has been found yet. [en.wikipedia.org]

Standard Therapies Treatment The treatment of Chromosome 21 Ring is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Management and treatment Management is multi-disciplinary and requires evaluation and treatment by a general pediatrician, and relevant specialists. Children will benefit from early assessment and access to the major developmental therapies. [orpha.net]

Prognosis Prognosis depends on the size and location of the deletion. It is severe if band 21q22 is involved, with vital prognosis depending on the severity of congenital malformations. [orpha.net]

The present study was designed to analyze clinical features, prognosis and response to different therapeutic strategies in patients with -7 or del(7q) in a multicentric, retrospective cohort study. [bloodjournal.org]

A total of 119 patients who had received induction therapy were finally analyzed to evaluate the predictive factors for a positive prognosis. [nature.com]

Etiology The disease is due to the loss of variable portions of the long arm of chromosome 21. Partial 21q deletions are interstitial or terminal. They occur de novo or as the result of a parental rearrangement. [orpha.net]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. [atlasgeneticsoncology.org]

Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology. 1997;16: 261–72. Google Scholar [2] Roach E, Demyer W, Conneally PM, Palmer C, Merritt AD. [degruyter.com]

Summary Epidemiology Monosomy 21 is a very rare condition with less than 50 cases described in the literature. Full monosomy 21 is probably not compatible with life. [orpha.net]

"Chromosome 21 and down syndrome: from genomics to pathophysiology". Nat Rev Genet. 5 (10): 725–38. doi : 10.1038/nrg1448. PMID 15510164. Antonarakis SE, Lyle R, Deutsch S, Reymond A (2002). [en.wikipedia.org]

The aim of this study was to determine the frequency of FISH patterns of BCR/ABL, AML1/ETO, PML/RARA, and p53 genes as a diagnostic tool to understand the pathophysiology, diagnosis, treatment, prognosis, and monitoring of disease activity in CML, AML [file.scirp.org]

Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004; 5 : 725–738. 12 Korenberg JR, Chen XN, Schipper R, Sun Z et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. [nature.com]

[…] symptoms listed below: * Wide set eyes * Large nose * Long nose * Small head * Short stature * Small jaw * Flexion deformity of toes Causes - Chromosome 21- monosomy 21q22 * Large nose * Long nose * Short stature * Small head * Small jaw * Wide set eyes Prevention [checkorphan.org]

Detection of this aberration in successive pregnancies of carrier members of the family by prenatal FISH could prevent the recurrence of the disease. [scienceopen.com]

In some cases, anticonvulsant medications may be administered to help prevent, reduce, or control seizures. [rarediseases.org]

Risk Factors and Preventive Measures Most chromosomal disorders are random events for which there are no preventive measures. [thisability.org]