Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype

Dorothy K. Grange; Jaime Garcia-Heras; Ramzi A. Kilani; Stephen Lamp

doi:10.1002/ajmg.a.30877

Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype

Dorothy K. Grange, Jaime Garcia-Heras, Ramzi A. Kilani, Stephen Lamp

Research output: Contribution to journal › Review article › peer-review

12 Scopus citations

Abstract

We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.

Original language	English
Pages (from-to)	308-312
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	137 A
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.30877
State	Published - Sep 1 2005

Keywords

Chromosome 20 pericentric inversion
Rec(20)dup(20q)
Trisomy 20q

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Grange, D. K., Garcia-Heras, J., Kilani, R. A., & Lamp, S. (2005). Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype. American Journal of Medical Genetics, 137 A(3), 308-312. https://doi.org/10.1002/ajmg.a.30877

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title = "Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype",

abstract = "We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.",

keywords = "Chromosome 20 pericentric inversion, Rec(20)dup(20q), Trisomy 20q",

author = "Grange, {Dorothy K.} and Jaime Garcia-Heras and Kilani, {Ramzi A.} and Stephen Lamp",

year = "2005",

month = sep,

day = "1",

doi = "10.1002/ajmg.a.30877",

language = "English",

volume = "137 A",

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journal = "American Journal of Medical Genetics",

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Grange, DK, Garcia-Heras, J, Kilani, RA & Lamp, S 2005, 'Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype', American Journal of Medical Genetics, vol. 137 A, no. 3, pp. 308-312. https://doi.org/10.1002/ajmg.a.30877

Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype. / Grange, Dorothy K.; Garcia-Heras, Jaime; Kilani, Ramzi A. et al.
In: American Journal of Medical Genetics, Vol. 137 A, No. 3, 01.09.2005, p. 308-312.

Research output: Contribution to journal › Review article › peer-review

TY - JOUR

T1 - Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1)

T2 - Clinical report and review of the trisomy 20q phenotype

AU - Grange, Dorothy K.

AU - Garcia-Heras, Jaime

AU - Kilani, Ramzi A.

AU - Lamp, Stephen

PY - 2005/9/1

Y1 - 2005/9/1

N2 - We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.

AB - We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.

KW - Chromosome 20 pericentric inversion

KW - Rec(20)dup(20q)

KW - Trisomy 20q

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U2 - 10.1002/ajmg.a.30877

DO - 10.1002/ajmg.a.30877

M3 - Review article

C2 - 16092120

AN - SCOPUS:24344469020

SN - 1552-4825

VL - 137 A

SP - 308

EP - 312

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 3

ER -

Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype

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