Cytogenetic Study of Seventy‐three Patients With Down's Syndrome

Edgren, J; Chapelle, Albert de la; Kääriäinen, Risto

doi:10.1111/j.1365-2788.1966.tb00171.x

Cited by 5 publications

(2 citation statements)

References 13 publications

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confidence: 99%

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance

Jones

McNamara

Longoni

et al. 2018

American J of Med Genetics Pt A

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Turner syndrome is a sex chromosome abnormality in which a female has a single X chromosome or structurally deficient second sex chromosome. The phenotypic spectrum is broad, and atypical features prompt discussion of whether the known features of Turner syndrome should be further expanded. With the advent of clinical whole exome sequencing, there has been increased realization that some patients with genetic disorders carry a second genetic disorder, leading us to hypothesize that a “dual diagnosis” may be more common than suspected for Turner syndrome. We report five new patients with Turner syndrome and a co-occurring genetic disorder including one patient with Li-Fraumeni syndrome, Li-Fraumeni and Noonan syndrome, mosaic trisomy 8, pathogenic variant in RERE, and blepharophimosis-ptosis-epicanthanus inversus syndrome. We also undertook an extensive literature review of 147 reports of patients with Turner syndrome and a second genetic condition. A total of 47 patients (31%) had trisomy 21, followed by 36 patients (24%) had one of 11 X-linked disorders. Notably, 80% of the 147 reported patients with a dual diagnosis had mosaicism for Turner syndrome, approximately twice the frequency in the general Turner syndrome population. This article demonstrates the potential for co-occurring syndromes in patients with Turner syndrome, prompting us to recommend a search for an additional genetic disorder in Turner patients with unusual features. Knowledge of the second condition may lead to modification of treatment and/or surveillance. We anticipate that increased awareness and improved diagnostic technologies will lead to the identification of more cases of Turner syndrome with a co-occurring genetic syndrome.

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Section: Figurementioning

confidence: 99%

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance

Jones

McNamara

Longoni

et al. 2018

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Parental mosaicism has long been known to be an etiological factor in trisomy 21 (Zellweger & Abbo 1963, Mikkelsen 1966, Tonomura et al 1966, Huang et al 1967, Richards 1967. Mosaicism which causes Down's syndrome can be maternal (Blank et al 1962, Weinstein & Warkany 1963, Verresen et al 1964, Chitham & Maclver 1965, Day & Wright 1965, Edgren et al 1966, Aarskog 1969, Krmpotic & Hardin 1971, Timson et al 1971, and, according to recently accumulated observations, also paternal in origin (Hsu et al 1971, MChes 1973.…”

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confidence: 99%