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Monosomy 21q

21q Deletion Syndrome


Presentation

  • 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]
  • 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]
  • Transverse palmar creases were not present in TY and LI. Muscular hypotonia was moderate in TY and AL.[publications.fondationlejeune.org]
  • A mechanism for the chromosome rearrangement is proposed and the absence of specific physical findings in the present patient is discussed in the light of the available literature data.[unboundmedicine.com]
  • 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]
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]
Turkish
  • Possible relationships between the hypogam-maglobulinemia and monosomy 21q, and between the SRS phe-notype and partial trisomy 7q are discussed.A 6-month-old Turkish boy was referred to the hospital forsevere pneumonia and dysmorphic features.[documents.tips]
Candidiasis
  • High-resolution physical and transcriptionalmapping of the autoimmune polyendocrinopathy-candidiasis-ectoder-mal dystrophy locus on chromosome 21q22.3 by FISH.[documents.tips]
Pneumonia
  • Possible relationships between the hypogam-maglobulinemia and monosomy 21q, and between the SRS phe-notype and partial trisomy 7q are discussed.A 6-month-old Turkish boy was referred to the hospital forsevere pneumonia and dysmorphic features.[documents.tips]
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]
Constipation
  • ., 2015) [ 24 ] Decipher#274603 5 Global developmental delay, hypotonia, constipation, impaired social interactions chr21:16079383-24575840 8.50 48 (7) Unknown Unknown KKI patient 3 - cohort A (Roberson et al., 2011) 6 Speech delay, mild/moderate mental[molecularcytogenetics.biomedcentral.com]
High Arched Palate
  • Different clinical man-ifestations, including dysmorphic features (hypertelorism, strabis-mus, wide open fontanels, epicanthus, frontal bossing, cleft palate,high-arched palate, and short neck), low birth weight, hypotonia,skeletal and kidney abnormalities[documents.tips]
  • […] eye fold id id Blepharitis, conjunctivitis ND ND ND Brushfield spots (iris color) - (darks) id - Nystagmus - id - - - Flat nasal bridge(a) id Mouth permanently open - - - ND - Abnormal teeth - Protruding tongue (macroglossia) - - ND - Furrowed tongue High-arched[publications.fondationlejeune.org]
Abnormal Teeth
  • Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are probably linked to the duplication of genes proximal to COL6A1.[publications.fondationlejeune.org]
Macroglossia
  • Some of the Down syndrome features observed in these three patients, including flat nasal bridge, macroglossia, incurved fifth finger, hypotonia, short stature, and mental retardation, have been associated with the duplication of the region around D21S55[publications.fondationlejeune.org]
Short Fifth Finger
  • fifth finger (right, left) , id -,- -,- id Incurved fifth finger (right, left)(a) , id -,- -,- id Transverse palmar crease (right, left) -,- id -,- -, id Gap between first and second toes (right, left)(a) , id , , id Congenital heart defect (type) -[publications.fondationlejeune.org]
Hyperlaxity
  • Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are probably linked to the duplication of genes proximal to COL6A1.[publications.fondationlejeune.org]
Strabismus
  • He had subcostal retrac-tions, and bilateral crackles and a heart murmur were auscultated.Features included prominent forehead, triangular face, large fon-tanelle, low-set ears, small mouth, thin upper lip, high archedpalate, strabismus, bilateral single[documents.tips]
Brushfield Spots
  • Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are probably linked to the duplication of genes proximal to COL6A1.[publications.fondationlejeune.org]
Blepharitis
  • . - Clinical Manifestations of Down Syndrome in Patients TY, LI, and AL TY LI AL Birth Age 9 years Age 15 d r Age 16 mo Age 26 years Jackson's checklist: Brachycephaly(a) id id Oblique eye fissure(a) id id Epicanthic eye fold id id Blepharitis, conjunctivitis[publications.fondationlejeune.org]
Widely Spaced Nipples
  • The clinical evaluation documented some dysmorphic features, such as low hair line and widely spaced nipples. In primary school she was noted to have learning difficulties associated with dyslexia and dyscalculia.[molecularcytogenetics.biomedcentral.com]
Delusion
Stroke
  • His mother (79 years old) was affected by hypertension and the father (80 years old) by insulin dependent diabetes mellitus and stroke. The patient had a 55 years old brother who was also affected by diabetes.[molecularcytogenetics.biomedcentral.com]
  • MELAS (cytochrome c oxydase) deficiency: Mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes syndrome (MELAS).. Respiratory chain complexes defects: Complex IV. Myoclonic epilepsy with ragged-red fibers syndrome (MERRF).[neurometplus.com]
Nystagmus
  • […] and AL TY LI AL Birth Age 9 years Age 15 d r Age 16 mo Age 26 years Jackson's checklist: Brachycephaly(a) id id Oblique eye fissure(a) id id Epicanthic eye fold id id Blepharitis, conjunctivitis ND ND ND Brushfield spots (iris color) - (darks) id - Nystagmus[publications.fondationlejeune.org]
Neglect
  • Indeed, attenuated phenotypes, such as poor social interactions, may be easily neglected and further genetic analyses are undertaken only when a suggestive familiar history is clearly ascertained.[molecularcytogenetics.biomedcentral.com]
Hand Tremor
Tremor
  • The neurological evaluation revealed mild head tremor and postural hand tremor. The Nuclear Magnetic Resonance (NMR) documented a periventricular white matter hyperintensity and enlarged cisterna magna.[molecularcytogenetics.biomedcentral.com]

Workup

  • 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]

Treatment

  • Treatment - Chromosome 21- monosomy 21q22 Not supplied. Resources - Chromosome 21- monosomy 21q22 Not supplied.[checkorphan.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]
  • 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]
  • Standard Therapies Treatment The treatment of Chromosome 21 Ring is directed toward the specific symptoms that are apparent in each individual.[rarediseases.org]

Prognosis

  • Prognosis - Chromosome 21- monosomy 21q22 Not supplied. Treatment - Chromosome 21- monosomy 21q22 Not supplied. Resources - Chromosome 21- monosomy 21q22 Not supplied.[checkorphan.org]
  • 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

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • "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]

Prevention

  • […] 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]
  • Treatment may also include measures to help prevent or aggressively treat infections. Other treatment is symptomatic and supportive. Early intervention may be important in ensuring that children with Chromosome 21 Ring reach their potential.[rarediseases.org]
  • Risk Factors and Preventive Measures Most chromosomal disorders are random events for which there are no preventive measures.[thisability.org]
  • As mentioned, various treatment methods are offered against EV; however, most importantly, education of the patient, early diagnosis, and excision of the tumoral lesions take preference to prevent the development of cutaneous tumors.[en.wikipedia.org]

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