Issues in prenatal counseling and diagnosis in Turner Syndrome

Loscalzo, Melissa L.; Bondy, Carolyn A.; Biesecker, Barbara B.

doi:10.1016/j.ics.2006.07.005

Cited by 2 publications

(1 citation statement)

References 18 publications

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“…15,37 When a karyotype consistent with Turner syndrome is found prenatally, postnatal chromosome analysis is recommended to document the child's karyotype. 38 …”

Section: Interpretation and Reportingmentioning

confidence: 99%

Laboratory guideline for Turner syndrome

Wolff

Dyke²,

Powell³

2010

Genetics in Medicine

137

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Disclaimer: This guideline is designed primarily as an educational resource for health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily ensure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline. Abstract:Turner syndrome is a disorder that has distinct clinical features and has karyotypic aberrations with loss of critical regions of the X chromosome. Several clinical guidelines on the diagnosis and management of patients with Turner syndrome have been published, but there is relatively little on the laboratory aspects associated with this disorder. This disease-specific laboratory guideline provides laboratory guidance for the diagnosis/study of patients with Turner syndrome and its variants. Because the diagnosis of Turner syndrome involves both a clinical and laboratory component, both sets of guidelines are required for the provision of optimal care for patients with Turner syndrome. Genet Med 2010:12(1):52-55.

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“…15,37 When a karyotype consistent with Turner syndrome is found prenatally, postnatal chromosome analysis is recommended to document the child's karyotype. 38 …”

Section: Interpretation and Reportingmentioning

confidence: 99%