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. [nature.com]

• Short Stature

  Aliases & Classifications for Rommen Mueller Sybert Syndrome Summaries for Rommen Mueller Sybert Syndrome MalaCards based summary : Rommen Mueller Sybert Syndrome, is also known as short stature heart defect and craniofacial anomalies. [malacards.org]

  Females with short stature and deletion of the distal region of Xp including the SHOX gene are generally not diagnosed with Turner syndrome. [nature.com]

• Pulmonary Valve Stenosis

  Valve Stenosis Aplasia Cutis Congenita Advanced Ectodermal Dysplasias Clouston Syndrome Adenylosuccinate Lyase Deficiency Increased Head Circumference Ospedale Pediatrico Bambino Gesu Internal Medicine Male Practicing approx. 42 years Bio Marco Tartaglia [medifind.com]

• Pathologist

  Individual laboratories are responsible for meeting the Clinical Laboratory Improvement Amendments/College of American Pathologists quality assurance (QA) standards with respect to appropriate sample documentation, assay validation, general proficiency [nature.com]

• Hypertrichosis

  Advances Clinical Trials Find a Doctor MT Areas of Expertise Elite Cardiomyopathic Lentiginosis Noonan Syndrome Rommen Mueller Sybert Syndrome Distinguished Costello Syndrome Cardiofaciocutaneous Syndrome Melasma Myhre Syndrome Gingival Fibromatosis with Hypertrichosis [medifind.com]

Download citation Received: 16 October 2009 Accepted: 16 October 2009 Issue Date: January 2010 DOI: https://doi.org/10.1097/GIM.0b013e3181c684b2 Keywords Turner syndrome guideline cytogenetics mosaicism Further reading Turner Syndrome: for successful treatment [nature.com]

Identification of Y chromosome material in females with Turner syndrome is important because of the risk of gonadoblastoma.18 A gonadoblastoma is a neoplasm composed of germ cells and sex cord elements with an excellent prognosis if detected early. [nature.com]

[…] low-level sex chromosome mosaicism.25 Although the frequency of gonadoblastoma in Turner syndrome with occult Y chromosome mosaicism without evidence of virilization is not fully appreciated, additional studies are recommended in these cases to help prevent [nature.com]