Double aneuploidy: Trisomy 21 andXO/XX sex chromosome mosaicism

Root, Allen W.; Bongiovanni, Alfred M.; Breibart, Sidney; Mellman, William J.

doi:10.1016/s0022-3476(64)80020-2

Cited by 19 publications

(8 citation statements)

References 12 publications

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“…The unique feature of the present case, however, is its diagnosis at birth, the earliest diagnosis made previously being at 2 months. 4 The karyotype 46,X, +21 /47,XX, +21 probably arose through a somatic error involving the X chromosome in a patient trisomic for chromosome 21 at conception. If this were true then there should be no excess risk of Turner syndrome in further children.…”

Section: Discussionmentioning

confidence: 99%

Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome

Gatrad

1981

Journal of Medical Genetics

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Section: Discussionmentioning

confidence: 99%

Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome

Gatrad

1981

Journal of Medical Genetics

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“…Double aneuploidy involving XO cells and autosomal trisomy possibly has an even lower survival rate: indeed, in such cases, XO cell lines have been demonstrated only in mosaic form (van Wijck et al, 1964;Root et al, 1964;Zergollern and Hoefnagel, 1964). Summary A male child is described with congenital malformations which are commonly associated with the trisomy D1 (13-15) syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Sex chromosome mosaicism associated with autosomal trisomy is less common, being described in only three cases, all with trisomy 21: XO/XX (van Wijck, Blankenborg, and Stolte, 1964; Root, Bongiovanni, Breibart, and Mellman, 1964) and XO/XX/XXX (Zergollern and Hoefnagel, 1964). The infant to be described represents a hitherto unrecognized association of XO/XY mosaicism and trisomy [13][14][15].…”

mentioning

confidence: 99%

Trisomy D1 (13-15) associated with XO-XY mosaicism.

Evison¹,

Butler²,

Snodgrass³

et al. 1967

Journal of Medical Genetics

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“…The fact that clinical features of the two syndromes may coexist shows the relative autonomy of these chromosomes in morphogenesis.323 CHROMOSOMAL MOSAICISM IN DOWN-TURNER SYNDROME Only one patient with Down-Turner syndrome has been reported who showed a single cell type (case 1) and is, therefore, not a true mosaic. All other cases are a combination of two (cases [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19], three (cases 20-25), or even four cell lines (cases [26][27][28]. Our patient (case 21) had three cell lines in cultured T lymphocytes, but only two in a fibroblast culture of a skin biopsy.…”

Section: Review Of Previously Published Casesmentioning

confidence: 99%

Down-Turner syndrome: case report and review.

Buggenhout

Hamel

Trommelen

et al. 1994

Journal of Medical Genetics

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We present a male patient with DownTurner mosaicism (45,X/46,X, + 21147,XY, + 21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both UlirichTurner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can also be present in patients with Down's syndrome and vice versa.In 19 May 1994 Chromosomal aneuploidy is quite frequent and may involve autosomes, as in Down's syndrome, or sex chromosomes, as in UllrichTurner syndrome. In contrast, double aneuploidy involving both autosomal and sex chromosomes is very rare. Sex chromosomal aneuploidy in combination with trisomy 21 includes Down-Klinefelter, Down-XXX, Down-XYY, and Down-Turner syndrome.lA Of these, Down-Turner syndrome is one of the most rare with only 27 cases being reported so far. We present a new case of Down-Turner mosaicism (45,X/46,X, + 21/47, XY, + 21), which was found during routine screening of a 59 year old male to confirm the clinical diagnosis of Down's syndrome and to rule out an inherited translocation. Cytogenetic and clinical features of all known cases are reviewed.Case report A 59 year old male, institutionalised from the age of 8 years, was presented for cytogenetic analysis to confirm the clinical diagnosis of Down's syndrome and to rule out the presence of an inherited chromosome aberration. The proband was the fourth child of non-consanguineous parents. There had been one miscarriage between the first and second children. At birth both parents were 40 years old. There was no family history of either Down's or Turner's syndrome. When the proband was 7 months old, psychomotor retardation was noticed. He walked at the age of 2 years 6 months and developed speech at 5 years. At the age of 7, he weighed 20X7 kg (25th centile) with a height of 117 cm (25th centile), and features of Down's syndrome were first noticed then. Clinical neurological investigation at the age of 32 was normal, but a pneumoencephalogram showed periventricular atrophy. Substitution therapy was started for primary hypothyroidism when he was 49 years old. On the Vineland Adaptive Behavior Scale his total psychological score was 4 years 8 months at the age of 53. However, he was able to write and read. A few years later a moderate bilateral perception hearing loss was diagnosed, with a loss of 35 dB on the left and 53 dB on the right (Fletcher index). He has recently developed diabetes mellitus type II which was treated orally.Recent investigation showed a well nourished, short statured male with a height of 156 cm (<3rd centile) and a weight of 64-5 kg (50th centile). He had a brachycephalic skull with a head circumference of 52-3 cm (<3rd centile). His hair was sparse and there was a low posterior hairline. He had a round face with small, upward slanting palpebral fissures, a flat midface, and a normal tongue. His ears were asymmetrical and measured 7 cm (75th to 97th c...

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Double aneuploidy: Trisomy 21 andXO/XX sex chromosome mosaicism

Cited by 19 publications

References 12 publications

Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome

Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome

Trisomy D1 (13-15) associated with XO-XY mosaicism.

Down-Turner syndrome: case report and review.

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