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Chromosome 6 Ring Syndrome

Ring Chromosome 6


Presentation

  • CASE PRESENTATION: Here we present an accurate cyto-molecular characterization of a ring chromosome 6 in a 16-months-old Caucasian girl with mild motor developmental delay, cardiac defect, and facial anomalies.[ncbi.nlm.nih.gov]
  • Presentation of Case: Female, Caucasian, born in Southeast of Brazil, 6 years old.[sciencedomain.org]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Respiratory Insufficiency
  • insufficiency Respiratory impairment 0002093 Short distal phalanx of finger Short outermost finger bone 0009882 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Urogenital fistula 0100589[rarediseases.info.nih.gov]
Failure to Thrive
  • […] to thrive Highly arched palate Bilateral hydronephrosis Delayed gross motor skills Mechanisms of ring formation [ edit ] By two DNA breaks, one in each arm of the same chromosome, followed by fusion of the proximal broken ends.[en.wikibooks.org]
Large Ears
  • Showing of 11 80%-99% of people have these symptoms Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Low posterior hairline Low hairline at back of neck 0002162 Macrotia Large ears[rarediseases.info.nih.gov]
Macrotia
  • Showing of 11 80%-99% of people have these symptoms Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Low posterior hairline Low hairline at back of neck 0002162 Macrotia Large ears[rarediseases.info.nih.gov]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Urogenital fistula 0100589 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[rarediseases.info.nih.gov]
Epicanthal Folds
  • The most common findings in subjects with ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and[ncbi.nlm.nih.gov]
  • Born by cesarean section, the physical examination at 6 years and 1 month old has shown: weight of 19.100 grams and 105 centimeters tall, developmental delay, bushy eyebrows, epicanthic folds and broad nasal bridge, cardiovascular and respiratory systems[sciencedomain.org]
Short Neck
  • The most common findings in subjects with ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and[ncbi.nlm.nih.gov]
  • neck, and delayed bone age.[rarediseases.info.nih.gov]

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

  • Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services.[rarediseases.info.nih.gov]
  • Management and Treatment Since seizures with RC20 syndrome are typically difficult to treat, seizure control is very important. Every case is different and complex.[epilepsy.com]
  • “There still remains a risk, but the findings may lead to the development of breakthrough treatment for chromosomal abnormalities.”[stemcellassays.com]
  • Before starting the treatment, we perform some necessary tests that will help us uncover what prevents you from conceiving a baby. Each couple is different and therefore needs a consultation with a professional. Many thanks to you![int.pronatal.cz]
  • Affected girls are short, though treatment with growth hormones can help increase height. Some have other health problems, including heart and kidney defects.[family-friendly-fun.com]

Prognosis

  • Serial targeted ultrasound examinations, especially of the brain, are decisive factors in elucidating the prognosis. Copyright 2002 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]
  • MLL) can occur in acute myeloid leukemia cases and are associated with a poor prognosis in all leukemias.[hoajonline.com]
  • […] are rare in occurrence supernumerary ring chromosomes often gradually disappear in vivo and only cells with normal karyotype are eventually observed (Michalski K et al. 1993 cited Hoo et al. 1980) not very many reports makes it difficult to predict prognosis[en.wikibooks.org]

Etiology

  • Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies. Blood. 2004; 103 :229-35. Article PubMed[hoajonline.com]

Prevention

  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • Before starting the treatment, we perform some necessary tests that will help us uncover what prevents you from conceiving a baby. Each couple is different and therefore needs a consultation with a professional. Many thanks to you![int.pronatal.cz]
  • […] ring chromosomes it has been demonstrated that the majority of children with rings show a failure to thrive beyond the extent expected from their chromosomal imbalances (Kosztolanyi 1987). suggested that this is due to the mitotic instability of rings, preventing[en.wikibooks.org]

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