(Q36742754)

16 August 2017

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title

Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations (English)

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16 August 2017

O Cohen

1

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16 August 2017

C Cans

2

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16 August 2017

M A Mermet

3

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16 August 2017

J Demongeot

4

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16 August 2017

P Jalbert

5

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16 August 2017

publication date

1 February 1994

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16 August 2017

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16 August 2017

volume

93

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16 August 2017

issue

2

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16 August 2017

page(s)

188-194

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PARTIAL TRISOMY-DEFICIENCY SYNDROME RESULTING FROM A RECIPROCAL TRANSLOCATION IN A LARGE KINDRED

16 August 2017

cites work

1 reference

12 December 2020

Trisomy 9p due to paternal translocation, t(9;13)(q13;q12)

1 reference

12 December 2020

Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9

1 reference

12 December 2020

Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the European Collaborative Prenatal Diagnosis Centres

1 reference

12 December 2020

Precise identification of various chromosomal abnormalities.

1 reference

12 December 2020

Structural differences in reciprocal translocations. Potential for a model of risk in Rcp

1 reference

12 December 2020

Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing

1 reference

12 December 2020

Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families

1 reference

12 December 2020

An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature

1 reference

12 December 2020

The dermatoglyphic pattern of the trisomy 9p syndrome

1 reference

12 December 2020

T (14q-; 21q + ) translocation in the father. Partial trisomy 14 and monosomy 21 in the daughter

1 reference

12 December 2020

New chromosomal dysmorphic syndromes. 4. Trisomy 12p.

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12 December 2020

Duplication 6q syndrome

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12 December 2020

[Partial trisomy (10pter leads to 10q21) and partial monosomy (21pter leads to 21q21) due to a reciprocal balanced familial translocation (10;21)(q21;q21) (author's transl)]

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12 December 2020

Tertiary trisomy 14: is there a syndrome?

1 reference

12 December 2020

Partial trisomy 13q inherited from balanced translocation (5;13) (p14;q13)

1 reference

12 December 2020

Familial translocation t(10;21)(q22;q22)

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12 December 2020

Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations

1 reference

12 December 2020

A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases

1 reference

12 December 2020

Balanced reciprocal translocations: risk factors for aneuploid segregant viability

1 reference

12 December 2020

Comments on estimations of risks to translocation carriers

1 reference

12 December 2020

A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses

1 reference

12 December 2020

Autosomal reciprocal translocations and 13/14 translocations: a population study

1 reference

12 December 2020

Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations

1 reference

12 December 2020

Chromosome bands, their chromatin flavors, and their functional features

1 reference

12 December 2020

A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child

1 reference

12 December 2020

Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.

1 reference

12 December 2020

Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families

1 reference

12 December 2020

Translocation of 9q/13q resulting in duplication (trisomy 9pter leads to 9q22) and deficiency (monosomy 13pter leads to 13q12)

1 reference

12 December 2020

[Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21]

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12 December 2020

Nondisjunction of a translocation-chromosome t(4;13)

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12 December 2020

Partial duplication for the short arm of chromosome 2 : the 2p23 to pter syndrome

1 reference

12 December 2020

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q

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12 December 2020

De novo appearance of a translocation t(5p; 2Iq), and its transmission in both balanced and unbalanced forms to the next generation

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12 December 2020

Human reciprocal translocations: is the unbalanced mode at birth predictable?

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12 December 2020

Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.

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12 December 2020

Experiences with risk estimates for carriers of chromosomal reciprocal translocations.

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12 December 2020

Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature

1 reference

12 December 2020

Trisomy 4p. Three new observations (author's transl)

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12 December 2020

Partial trisomy 12q: report of a case and review

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12 December 2020

Human reciprocal translocations: a new computer system for genetic counseling

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00210608

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16 August 2017

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