Tandem duplication of proximal 5q

A. Rojas-Martinez; D. Garcia-Cruz; C. Medina; M. Moller; C. M. Restrepo; H. Rivera

Tandem duplication of proximal 5q

A. Rojas-Martinez, D. Garcia-Cruz, C. Medina, M. Moller, C. M. Restrepo, H. Rivera

Research output: Contribution to journal › Research Article › peer-review

Abstract

A 3.5-year-old boy with a de novo tandem duplication 5q11.1→5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11→q13.

Original language	English (US)
Pages (from-to)	228-230
Number of pages	3
Journal	Annales de Genetique
Volume	33
Issue number	4
State	Published - 1990
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics

Cite this

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title = "Tandem duplication of proximal 5q",

abstract = "A 3.5-year-old boy with a de novo tandem duplication 5q11.1→5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11→q13.",

author = "A. Rojas-Martinez and D. Garcia-Cruz and C. Medina and M. Moller and Restrepo, {C. M.} and H. Rivera",

year = "1990",

language = "English (US)",

volume = "33",

pages = "228--230",

journal = "Annales de Genetique",

issn = "0003-3995",

publisher = "Elsevier Masson SAS",

number = "4",

}

TY - JOUR

T1 - Tandem duplication of proximal 5q

AU - Rojas-Martinez, A.

AU - Garcia-Cruz, D.

AU - Medina, C.

AU - Moller, M.

AU - Restrepo, C. M.

AU - Rivera, H.

PY - 1990

Y1 - 1990

N2 - A 3.5-year-old boy with a de novo tandem duplication 5q11.1→5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11→q13.

AB - A 3.5-year-old boy with a de novo tandem duplication 5q11.1→5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11→q13.

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UR - http://www.scopus.com/inward/citedby.url?scp=0025613437&partnerID=8YFLogxK

M3 - Research Article

C2 - 1710431

AN - SCOPUS:0025613437

SN - 0003-3995

VL - 33

SP - 228

EP - 230

JO - Annales de Genetique

JF - Annales de Genetique

IS - 4

ER -

Tandem duplication of proximal 5q

Abstract

All Science Journal Classification (ASJC) codes

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