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Ring Chromosome 18


Presentation

  • The presented case will contribute to the identification of the genotype-phenotype correlation in chromosome 18 anomalies.[ncbi.nlm.nih.gov]
  • The case of monosomy 18/ring chromosome 18 mosaicism which was detected prenatally by amniocentesis is presented. The pregnancy was terminated in week 18.[ncbi.nlm.nih.gov]
  • In the present report the authors describe the clinical manifestations of a girl with ring chromosome 18 (46XX,r18) including dysmorphic features, failure to thrive, global delay of development, hypothyroidism, atopic dermatitis, bilateral chronic otitis[ncbi.nlm.nih.gov]
  • The present case seems to fall into this category.[ncbi.nlm.nih.gov]
  • We present his clinical course and the genetic counseling challenges associated with this case.[ncbi.nlm.nih.gov]
Euthyroid
  • A maintenance dose of levothyroxine has effectively maintained the euthyroid state and normalized liver function tests despite no immunosuppressive therapy.[ncbi.nlm.nih.gov]
Dysmorphic Face
  • Ring chromosome 18 [r18] is a rare constitutional chromosomal aberration syndrome, characterized by dysmorphic face, hypoactivity, short stature, and delayed development.[ncbi.nlm.nih.gov]
Failure to Thrive
  • In the present report the authors describe the clinical manifestations of a girl with ring chromosome 18 (46XX,r18) including dysmorphic features, failure to thrive, global delay of development, hypothyroidism, atopic dermatitis, bilateral chronic otitis[ncbi.nlm.nih.gov]
Regurgitation
  • […] report the authors describe the clinical manifestations of a girl with ring chromosome 18 (46XX,r18) including dysmorphic features, failure to thrive, global delay of development, hypothyroidism, atopic dermatitis, bilateral chronic otitis media, aortic regurgitation[ncbi.nlm.nih.gov]
Liver Dysfunction
  • The liver dysfunction was associated with hypothyroidism that resolved with thyroid hormone treatment. While the former combination has been described, the latter has not.[ncbi.nlm.nih.gov]
  • dysfunction in a patient with ring chromosome 18 syndrome. ( 22947348 ) Ohkubo K....Hara T. 2012 13 Abnormal myelination in ring chromosome 18 syndrome. ( 22290857 ) Benini R....Bernard G. 2012 14 Ring chromosome 18 in a child with febrile seizures.[malacards.org]

Workup

Gliosis
  • These patchy lesions may indicate demyelination or gliosis rather than hypomyelination. This result differs from previous reports.[ncbi.nlm.nih.gov]

Treatment

  • The outcome of orthodontic-prosthodontic treatment was evaluated by comparing cephalograms during the course of treatment.[ncbi.nlm.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The liver dysfunction was associated with hypothyroidism that resolved with thyroid hormone treatment. While the former combination has been described, the latter has not.[ncbi.nlm.nih.gov]
  • A summary of the karyotypes, treatments, and follow-up is presented in Table 1.[jhoonline.biomedcentral.com]

Prognosis

  • Considering that ring chromosomes are rare in acute myelogenous leukemia (AML), it is difficult to risk stratify patient prognosis, particularly when the ring chromosome occurs as the sole abnormality.[ncbi.nlm.nih.gov]
  • Eight of these patients had multiple, complex cytogenetic abnormalities which are associated with a poor prognosis.[jhoonline.biomedcentral.com]
  • MLL) can occur in acute myeloid leukemia cases and are associated with a poor prognosis in all leukemias.[hoajonline.com]
  • Many parents are given a very pessimistic prognosis when their child is first diagnosed: the doctors who make the diagnosis have rarely seen other patients who are affected by the same disorder, and are unsure what outcomes they should expect.[eurordis.org]
  • But even if clinical diagnosis is obvious, it has to be confirmed by cytogenetic examination, because almost all chromosomal disorders may exist in different cytogenetic variants with very different prognosis for the family.[justjamesinfo.wordpress.com]

Etiology

  • In this report we describe a patient with M5 AML with a ring 18 abnormality and discuss the etiology, clinical features, classification, and the clinical dilemma related to treatment of ring chromosome aberrations in AML.[jhoonline.biomedcentral.com]
  • Ten to fifteen percent of people with 18p- have holoprosencephaly, suggesting that other genetic and environmental facts play a role in the etiology of holoprosencephaly in these individuals.[en.wikipedia.org]

Prevention

  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]
  • To prevent the interference with cell division most centromeres of the supernumerary ring had to be inactivated. This may explain the loss of the monocentric ring in subsequent cell divisions.[molecularcytogenetics.biomedcentral.com]
  • ., IgA), disease management includes ongoing monitoring and appropriate, supportive measures to help prevent and aggressively treat infections. Early intervention may be important in ensuring that affected children reach their potential.[rarediseases.org]

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