(Q33682033)

28 July 2017

1 reference

title

Eleven new cases of del(9p) and features from 80 cases (English)

1 reference

28 July 2017

Huret JL

1

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28 July 2017

Leonard C

2

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28 July 2017

Forestier B

3

1 reference

28 July 2017

Rethoré MO

4

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28 July 2017

Lejeune J

5

1 reference

28 July 2017

language of work or name

English

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publication date

1 November 1988

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Journal of Medical Genetics

28 July 2017

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28 July 2017

25

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28 July 2017

741-749

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28 July 2017

11

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Partial trisomy for long arm of chromosome 16.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

The dup(3q) syndrome: report of eight cases and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Familial tiny 9p/20p translocation: 9p24. The critical segment for monosomy 9p syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Monosomy for the centromeric regions of chromosome 21

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

NOR activity and centromere suppression related in a de novo fusion tdic(9;13)(p22;p13) chromosome in a child with del(9p) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Partial deletion of the short arm of the chromosome 9

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Deletion in the short arm of chromosome 9 from a subject with congenital cerebral maldevelopment. Repository identification No. GM-870

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

The 9p- deletion syndrome. A patient with a 45, XX-9, -15, +t(9/15) constitution due to maternal 3:1 meiotic disjunction.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

9p monosomy. About a new case. Clinical and cytogenetic study (author's transl)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Concordant congenital malformations in twins with inherited translocation: t(9p-;13q+)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

A pericentric inversion of chromosome 9 and a rearrangement involving chromosomes 9 and 10, observed in two generations. Clinical description of chromosome 9 (p12-p21) deletion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9) (pter yields p12:)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

A case of partial 9p monosomy with some unusual clinical features

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Another case of 9P-syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

Brief clinical report: two children with de novo del(9p).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051577

C-group chromosome abnormality (? 10p-). Occurrence in a child with multiple malformations

30 October 2018

1 reference

12 December 2020

46, Del (9) (22:), a new deletion syndrome

1 reference

12 December 2020

The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation

1 reference

12 December 2020

Partial trisomy 5 with a carrier parent t(5p‐;9p+)

1 reference

12 December 2020

9pter leads p22 deletion syndrome: a case report

1 reference

12 December 2020

12P trisomy: a syndrome?

1 reference

12 December 2020

The deletion 9p syndrome. A 61-year-old man with deletion of short arm 9

1 reference

12 December 2020

A case of 9p- syndrome

1 reference

12 December 2020

Partial monosomy of the short arm of chromosome 9: a distinct clinical entity

1 reference

12 December 2020

Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome

1 reference

12 December 2020

4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations

1 reference

12 December 2020

Duplication of region 2q31 leads to 2qter in a family with 2/9 translocation

1 reference

12 December 2020

A clinical syndrome associated with 5p duplication and 9p deletion

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

Deletion of the short arm of chromosome 9. A clinically recognisable entity

1 reference

12 December 2020

Two new cases of 9p- syndrome

1 reference

12 December 2020

Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band

1 reference

12 December 2020

Short stature and microgenitalia in the 9p-syndrome

1 reference

12 December 2020

The crucial band for phenotype of trisomy 18

1 reference

12 December 2020

Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10. Regional mapping of GOT1 and PGAMA to subbands 10q26.1 (or q25.3)

1 reference

12 December 2020

9p-syndrome: two new observations

1 reference

12 December 2020

Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY, -9, +DER(9)T(6:9)(p211:p24)

1 reference

12 December 2020

Karyotype-phenotype analysis: 9p deletion versus 10q2 duplication

1 reference

12 December 2020

46, XX, 1q-, 2q-, Dq+, 16q+ karyotype in a polymalformed child

1 reference

12 December 2020

Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome

1 reference

12 December 2020

Identifiers

PMCID

1051577

1 reference

28 July 2017

1 reference