Familial occurrence of a del(Xp-) chromosome: Pitfall in karyotype/phenotype correlation

Soyke, Antje; Stümm, Markus; Krebs, Petra; Kloos, D U; Elsner, Jessica; Mohnike, Klaus

doi:10.1002/(sici)1096-8628(19981204)80:4<436::aid-ajmg26>3.0.co;2-4

Cited by 2 publications

(2 citation statements)

References 14 publications

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“…Pregnancies may occur in 45,X/46,XX mosaics and non‐mosaic 46,X,del(Xp) patients [Birkebaek et al, 2002]. Thus, the present proposita with three pregnancies and no known abortions in a mosaic 45,X/46,X,del(Xp) UTS patient is highly unusual but not unique [Varela et al, 1991; Palka et al, 1994; Magee et al, 1998; Soyke et al, 1998]. It should also be noted that three non‐mosaic 46,X,del(Xp) UTS patients were reported to have had 3–4 children each, born at maternal age 17–32, indicating almost normal fertility [Birkebaek et al, 2002].…”

Section: Resultsmentioning

confidence: 99%

Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich–Turner syndrome patient with three children

Houge

Boman

Lybæk

et al. 2006

American J of Med Genetics Pt A

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A woman with apparent 45,X Ullrich-Turner syndrome was ascertained after the birth of three girls, the last being growth retarded due to a del(X)(p22.11) of grand-paternal origin. In this woman no del(X)-chromosome was detectable in blood by FISH or PCR. Fibroblast cultures from four different biopsies of her skin varied from having 45,X only to mosaic 46,X,del(X) to 46,X,del(X) only. In one fibroblast culture, a few cells with two del(X) chromosomes were found, probably remnants of a paternal dicentric X that caused the condition. Her three daughters were born when she was 29, 31, and 39 years old, respectively, indicating that disomy for the distal half of Xp is not required for normal folliculogenesis. When studying the crossover pattern of her daughters' maternal X-chromosomes, it turned out that one daughter had an X that was exclusively grand-maternal, one daughter lacked crossovers on Xq, and one daughter lacked crossovers on Xp. This suggests that univalent X-chromosomes were present in the Ullrich-Turner patient's primordial egg cells, either because there was only a single X-chromosome present (a 45,X primary oocyte), or because the X-chromosome was a partially or completely unpaired in pachytene, indicating a problem with chromosome association and synapsis formation.

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Section: Resultsmentioning

confidence: 99%

Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich–Turner syndrome patient with three children

Houge

Boman

Lybæk

et al. 2006

American J of Med Genetics Pt A

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show abstract

“…Thus, partial X monosomies can serve to clarify the phenotypic variability and the genetic mechanisms leading to the development of Turner syndrome (1). Non‐mosaic partial deletions of the short arm of the X chromosome in the region of Xp21 have occasionally been described in the literature (2, 3), and hereditary forms have also been reported (4). Recently, women with inherited deletion of Xp have been described as having normal to mildly short stature (5, 6).…”

Section: Results Of Fluorescent In Situ Hybridization Using Probes Spmentioning

confidence: 99%

Molecular cytogenetic analysis of a Xp21.3‐pter deletion in a family with normal and short stature

Tachdjian¹,

Perreaux

Aboura³

et al. 2002

Clinical Genetics

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Familial occurrence of a del(Xp-) chromosome: Pitfall in karyotype/phenotype correlation

Cited by 2 publications

References 14 publications

Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich–Turner syndrome patient with three children

Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich–Turner syndrome patient with three children

Molecular cytogenetic analysis of a Xp21.3‐pter deletion in a family with normal and short stature

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