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Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment

Data up to Jan 2025

Published1983
Citations50
References23

Total Citations Per Year

Abstract

References (23)

High Resolution of Human Chromosomes

1976 • 786 citations

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

1982 • 238 citations

High resolution R- and G-banding on the same preparation

1981 • 210 citations

Translocation of immunoglobulin VH genes in Burkitt lymphoma.

1982 • 196 citations

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

1981 • 147 citations

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant aicardi's syndrome) in a girl with balanced X/3 translocation

1982 • 101 citations

The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.

1976 • 79 citations

Preferential maternal derivation in inv dup(15)

1981 • 71 citations

Prader‐Willi syndrome and a bisatellited derivative of chromosome 15

1980 • 65 citations

[A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)].

1979 • 56 citations

An extra idic(15p)(q11) chromosome in Prader-Willi syndrome

1980 • 47 citations

15/15 translocation in Prader-Willi syndrome.

1977 • 45 citations

A girl with the Prader-Willi Syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

1980 • 43 citations

The cytogenetic controversy in the Prader‐Labhart‐Willi syndrome

1982 • 41 citations

(6;15) Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members

1973 • 39 citations

Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: The assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it

1982 • 38 citations

Chromosomal Translocation in a Mentally Deficient Child with Cryptorchidism

1963 • 34 citations

Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, McKusick) is at Xq28, distal to the G6PD locus

1982 • 33 citations

Metacarpophalangeal pattern profile analysis in Prader‐WiIIi syndrome

1982 • 28 citations

Primary Hypogonadism and 13/15 Chromosome Translocation in Prader-Labhart-Willi Syndrome

1981 • 24 citations

Quinacrine fluorescence patterns in somatic chromosomes of a t(15q15q) carrier

1972 • 17 citations

A 15/17 Translocation in a Patient with Prader-Labhart-Willi Syndrome

1982 • 12 citations

[Prader-Willi syndrome and translocation 15/15].

1982 • 5 citations

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Deficiency, transposition, and duplication of one 15q region may be alternatively… (1983) – Human Genetics | Metascience Observatory Explorer