Familial dicentric translocation t(13;18)(p13;p11.2) ascertained by recurrent miscarriages.

Daniel, Art; Perel, I D; Saville, Toni

doi:10.1136/jmg.16.1.73

Cited by 7 publications

(1 citation statement)

References 7 publications

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“…Hitherto, a few cases with reproductive wastage as a result of TAS [Warburton et al, 1973; Daniel et al, 1979; Wang and Li, 1992; Levy et al, 2000; Zahed et al, 2002] and a small number of infertile males with JTs have been published [Zahed et al, 2004; McAdoo et al, 2005; Iwarsson et al, 2009]. Generally, it is well known that the formation of synaptonemal complex and meiotic recombination between homologues are two critical events which can be impaired by chromosomal abnormalities, and failures in both of these processes have been associated with meiotic arrest and infertility [Gonsalves et al, 2004; Ferguson et al, 2008].…”

Section: To the Editormentioning

confidence: 99%

Constitutional telomeric dysfunction in an azoospermic male with extensive telomeric association

Salahshourifar¹,

Karimi²,

Tavakolzadeh³

et al. 2010

American J of Med Genetics Pt A

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Section: To the Editormentioning

confidence: 99%

Constitutional telomeric dysfunction in an azoospermic male with extensive telomeric association

Salahshourifar¹,

Karimi²,

Tavakolzadeh³

et al. 2010

American J of Med Genetics Pt A

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Mosaic telomeric (2;14) association in a child with motor delay

Engelen¹,

Marcelis²,

Herbergs³

et al. 2000

Am. J. Med. Genet.

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In a 6-year-old girl referred because of mild motor delay and hyperextensible joints, chromosome analysis disclosed a derivative chromosome consisting of end-to-end fusion of chromosomes 2 and 14. Two cell lines existed in which this telomere association was present, one with a 45,XX,tas(2;14)(q37;p11) karyotype and one with a 45,XX,tas(2;14) (q37;q32) karyotype. The cell line with the telomeric fusion of 2q and 14p was present in 90% of the cells; a telomeric fusion of 2q and 14q was seen in the remaining 10% of the cells. In both association complexes, only the centromere of chromosome 14 was active. Fluorescence in situ hybridization with telomere and subtelomere probes disclosed no deletion of chromosomal material. Microsatellite analysis showed that the patient had a normal biparental contribution of chromosomes 14.

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Trisomy 18q: 46, XX,13q+,t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46, XY,‐13,+der(13)/t(13;18)(q32;q11)

1980

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A 20‐day‐old female neonate presented with multiple congenital anomalies, convulsions and failure to thrive. Karyotype analysis of the proposita revealed an unbalanced translocation, 46, XX,13q+,t(13;18)(q32;qll)pat resulting in partial trisomy 18q. Her father and a 5‐year‐old sister were phenotypically normal, balanced translocation carriers, 46, XY, ‐13, + der(13),t(13;18)(q32;qll) and 46, XX,‐13,+der(13),t(13;18)(q32;qll), respectively. The case presented here is the second liveborn reported with trisomy 18q and is of interest from the point of view of the structural chromosomal aberration resulting in the manifestations of most features of trisomy 18 and some of 13q monosomy. The infant died due to convulsions at the age of 2 months.

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Familial dicentric translocation t(13;18)(p13;p11.2) ascertained by recurrent miscarriages.

Cited by 7 publications

References 7 publications

Constitutional telomeric dysfunction in an azoospermic male with extensive telomeric association

Constitutional telomeric dysfunction in an azoospermic male with extensive telomeric association

Mosaic telomeric (2;14) association in a child with motor delay

Trisomy 18q: 46, XX,13q+,t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46, XY,‐13,+der(13)/t(13;18)(q32;q11)

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