Ring 20 chromosome phenotype

B. Porfirio; M. G. Valorani; A. Giannotti; G. Sabetta; B. Dallapiccola

Ring 20 chromosome phenotype

B. Porfirio, M. G. Valorani, A. Giannotti, G. Sabetta, B. Dallapiccola

Ospedale Pediatrico Bambino Gesu

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

Abstract

A baby with a 46,XY,r(20) karyotype is described. The distinguishing features of this rare chromosome anomaly are analysed in the light of the suggested r(20) syndrome.

Original language	English
Pages (from-to)	375-377
Number of pages	3
Journal	Journal of Medical Genetics
Volume	24
Issue number	6
Publication status	Published - 1987

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Ring 20 chromosome phenotype",

abstract = "A baby with a 46,XY,r(20) karyotype is described. The distinguishing features of this rare chromosome anomaly are analysed in the light of the suggested r(20) syndrome.",

author = "B. Porfirio and Valorani, {M. G.} and A. Giannotti and G. Sabetta and B. Dallapiccola",

year = "1987",

language = "English",

volume = "24",

pages = "375--377",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "6",

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TY - JOUR

T1 - Ring 20 chromosome phenotype

AU - Porfirio, B.

AU - Valorani, M. G.

AU - Giannotti, A.

AU - Sabetta, G.

AU - Dallapiccola, B.

PY - 1987

Y1 - 1987

N2 - A baby with a 46,XY,r(20) karyotype is described. The distinguishing features of this rare chromosome anomaly are analysed in the light of the suggested r(20) syndrome.

AB - A baby with a 46,XY,r(20) karyotype is described. The distinguishing features of this rare chromosome anomaly are analysed in the light of the suggested r(20) syndrome.

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M3 - Article

C2 - 3612710

AN - SCOPUS:0023221897

VL - 24

SP - 375

EP - 377

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 6

ER -