The "D" (13-15) trisomy syndrome: an analysis of 7 examples.

Snodgrass, G. J. A. I.; Butler, L. J.; France, N. E.; Crome, L.; Russell, Aline

doi:10.1136/adc.41.217.250

Cited by 35 publications

(14 citation statements)

References 27 publications

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“…The spectrum of anatomical features of the fetus was similar to that found in most examples of trisomy 13 (Snodgrass et al, 1966). Examination of an affected fetus of this maturity was of interest in that it threw some light on the development of arrhinencephaly, a condition where the olfactory bulbs, tracts, and striae are absent.…”

Section: Necropsy Of Fetusmentioning

confidence: 66%

Antenatal Diagnosis of Patau's Syndrome (Trisomy 13) including a Detailed Pathological Study of the Fetus

Butler¹,

Reiss²,

France³

et al. 1973

Journal of Medical Genetics

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Summary. The first ever antenatal diagnosis of Patau's syndrome (trisomy 13) during the 19th week of the pregnancy of a 42-year-old woman is reported. Karyotypes were obtained from amniotic fluid cell cultures established at 17 weeks and the results were confirmed by chromosome banding studies and fetal skin cultures. The pregnancy was terminated by hysterotomy and sterilization was performed at the same operation. A detailed description ofthe fetus is included and the pathogenesis of arrhinencephaly is discussed. The current status of antenatal screening for chromosome anomalies is presented.

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Section: Necropsy Of Fetusmentioning

confidence: 66%

Antenatal Diagnosis of Patau's Syndrome (Trisomy 13) including a Detailed Pathological Study of the Fetus

Butler¹,

Reiss²,

France³

et al. 1973

Journal of Medical Genetics

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“…14. Although satellites were present, they were not unduly prominent or enlarged as they were in six of seven cases of trisomy D reported by Snodgrass, Butler, France, Crome, and Russell (1966).…”

Section: Case Reportmentioning

confidence: 69%

“…Typical craniofacial defects included microcephaly, marked trigonocephaly, a bulbous nose with a broad bridge, ocular defects, a long upper lip, low-set ears with primitive helices, and slight webbing of the neck .. (facial category 2- Snodgrass et al, 1966). The hands were spade-like with flexion deformities of fingers, retroflexible thumbs, and hyperconvex nails.…”

Section: Discussionmentioning

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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“…Thus, some 'atypical' cases of Case reports 'trisomy 13 syndrome' (e.g. Snodgrass et al, 1966;Neu et al, 1971 ;Webb et al, 1971) conceivably could represent cases of trisomy 14. Fourth, trisomy 14 may produce so few phenotypic abnormalities that affected individuals are not necessarily brought for genetic consultation.…”

Section: Discussionmentioning

confidence: 99%