Double Autosomal Trisomy: Case Report (48, Xx, +18, +21) and Review of the Literature

Grosse, K.-P.; Schwanitz, Gesa

doi:10.1111/j.1365-2788.1977.tb01593.x

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…1 The exclusive involvement of 2 autosomes results in more severe malformations mainly associated with only 1 of the 2 aneuploidies. 2 Here we describe the uncommon case of a first-trimester fetus with a 48,XX,+18+21 karyotype, presenting prenatal ultrasound (US) evidence of congenital anomalies typical of both 18 and 21 autosomal trisomies.…”

Section: Prenatal Diagnosis Of An Uncommon 48xx+18+21 Karyotype In mentioning

confidence: 98%

“…7 To our knowledge, only 1 case of trisomy 18 and trisomy 21, diagnosed in a 13-month-old girl by a cytogenetic analysis performed to confirm the Down syndrome phenotype, has been described. 2 Moreover, only a few cases of DT mosaicism have been reported so far. 8 In prenatal diagnosis, DT involving trisomy 18 or trisomy 21 was reported only in association with a sex chromosome imbalance, probably because when it involves 2 autosomes, it leads to early pregnancy failure.…”

Section: Prenatal Diagnosis Of An Uncommon 48xx+18+21 Karyotype In mentioning

confidence: 99%

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Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies

Fiorio

Donarini

Fulcheri

et al. 2020

J of Ultrasound Medicine

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Section: Prenatal Diagnosis Of An Uncommon 48xx+18+21 Karyotype In mentioning

confidence: 98%

Section: Prenatal Diagnosis Of An Uncommon 48xx+18+21 Karyotype In mentioning

confidence: 99%

Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies

Fiorio

Donarini

Fulcheri

et al. 2020

J of Ultrasound Medicine

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Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21.

Sulewski¹,

Thao-phuong-Dang²,

Ward³

et al. 1980

Journal of Medical Genetics

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Double Aneuploidy in Down Syndrome

Söylemez¹

2015

Health Problems in Down Syndrome

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Aneuploidy is the second most important category of chromosome mutations relating to abnormal chromosome number. It generally arises by nondisjunction at either the first or second meiotic division. However, the existence of two chromosomal abnormalities involving both autosomal and sex chromosomes in the same individual is relatively a rare phenomenon. The underlying mechanism involved in the formation of double aneuploidy is not well understood. Parental origin is studied only in a small number of cases and both nondisjunctions occurring in a single parent is an extremely rare event. This chapter reviews the characteristics of double aneuploidies in Down syndrome have been discussed in the light of the published reports.

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Double Autosomal Trisomy: Case Report (48, Xx, +18, +21) and Review of the Literature

Cited by 3 publications

References 9 publications

Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies

Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies

Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21.

Double Aneuploidy in Down Syndrome

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