(Q51982571)

19 April 2018

title

Two cases with interstitial deletions of chromosome 2 and sex reversal in one. (English)

1 reference

19 April 2018

author name string

Slavotinek A

1

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19 April 2018

Schwarz C

2

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19 April 2018

Getty JF

3

1 reference

19 April 2018

Stecko O

4

1 reference

19 April 2018

Goodman F

5

1 reference

19 April 2018

Kingston H

6

1 reference

19 April 2018

publication date

1 September 1999

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19 April 2018

American Journal of Medical Genetics Part A

published in

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19 April 2018

volume

86

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19 April 2018

page(s)

75-81

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19 April 2018

issue

1

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19 April 2018

Deletion 9p and sex reversal

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Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33).

21 January 2018

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Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review

21 January 2018

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Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase

21 January 2018

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

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A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779

21 January 2018

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Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation.

21 January 2018

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Precise identification of various chromosomal abnormalities.

21 January 2018

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Del(2q)--cause of the wrinkly skin syndrome?

21 January 2018

1 reference

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Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father

21 January 2018

1 reference

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A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.

21 January 2018

1 reference

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Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations

21 January 2018

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Order of six loci at 2q24-q31 and orientation of the HOXD locus.

21 January 2018

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Interstitial deletion of the long arm of chromosome 2: a dose study on isocitrate dehydrogenase 1.

21 January 2018

1 reference

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Interstitial deletion of the long arm of chromosome 2: a case report and review of the literature

21 January 2018

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Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review

21 January 2018

1 reference

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Coiled bodies and gems: Janus or gemini?

21 January 2018

1 reference

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Interstitial deletion 2q31 leads to q33

21 January 2018

1 reference

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Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2)(q21;q24)

21 January 2018

1 reference

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Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990903%2986%3A1%3C75%3A%3AAID-AJMG15%3E3.0.CO%3B2-J

Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990903%2986%3A1%3C75%3A%3AAID-AJMG15%3E3.0.CO%3B2-J

Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations

21 January 2018

1 reference

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21 January 2018

Deletion 2q syndrome?

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990903%2986%3A1%3C75%3A%3AAID-AJMG15%3E3.0.CO%3B2-J

Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature

21 January 2018

1 reference

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Interstitial deletion del(2)(q24q31) with a phenotype similar to del(2)(q31q33)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990903%2986%3A1%3C75%3A%3AAID-AJMG15%3E3.0.CO%3B2-J

Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990903%2986%3A1%3C75%3A%3AAID-AJMG15%3E3.0.CO%3B2-J

10.1002/(SICI)1096-8628(19990903)86:1<75::AID-AJMG15>3.0.CO;2-J

21 January 2018

Identifiers

DOI

1 reference

19 April 2018

PubMed ID

10440834

1 reference

19 April 2018