C. = Counted.A. = Analysed.* The karyotype was variable in these seven cells.t Presumptive 4A +XXL * The karyotype was variable in these four cells.S Presumptive 44A + XXYY.

Hermaphrodite

10.1136/bmj.2.5401.84-a

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Citations (16)

AN XY FEMALE WITH ABSENT GONADS AND VESTIGIAL PELVIC ORGANS

BJOG An International Journal of Obstetrics & Gynaecology (1963)

C. J. Dewhurst C. G. Paine C. E. Blank

10.1111/j.1471-0528.1963.tb04966.x

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Citations (24)

Carrier detection and prenatal diagnosis in Norrie disease

Prenatal Diagnosis (1989)

Diana Curtis C. E. Blank M. A. Parsons Howard Hughes

Abstract We report the use of DNA probes to determine carrier status in three young women from a large kindred with Norrie disease. One of the women requested prenatal diagnosis during pregnancy. In this pedigree, Norrie disease was not characterized by a deletion at DXS7.

10.1002/pd.1970091009

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Citations (7)

Segregation of ABO, AK₁ and ACON_S in families with abnormalities of chromosome 9

Annals of Human Genetics (1978)

P.J.L. Cook E.B. Robson K.E. Buckton Clive A. Slaughter J.E. Gray

Some families with abnormalities of chromosome 9 have been combined with others from the literature to show that AK1 and ABO must lie near the end of that chromosome. Current evidence suggests that both lie in band 9q34. MNSs, GPT and Gc can be excluded from chromosome 9.

Lod score

10.1111/j.1469-1809.1978.tb01904.x

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Citations (42)

A patient with 45,XX,Gminus-46,XX,Gr mosaicism.

Journal of Medical Genetics (1969)

C. E. Blank John Lorber

This is a brief report on a patient with physical and mental maldevelopment who was shown to have a chromosome abnormality of an unusual type affecting the G (21-22) group.Case History She was an only child born when her mother was 26 and her father was 44 years of age.Her birthweight was

10.1136/jmg.6.2.220

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Citations (19)

Early onset hereditary spinocerebellar ataxia: an autosomal recessive disorder distinct from Friedreich's ataxia.

PubMed (1989)

Dheeraj Kumar C. E. Blank

Degenerative Disorder

Source

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Citations (2)