Partial trisomy 8q resulting from maternal translocation t(2;8)(q373;q23)

P. L. Giorgi; E. Tarantino; A. Formica; P. Cipriani; B. Dallapiccola

Partial trisomy 8q resulting from maternal translocation t(2;8)(q373;q23)

P. L. Giorgi, E. Tarantino, A. Formica, P. Cipriani, B. Dallapiccola

Ospedale Pediatrico Bambino Gesu

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

Abstract

A patient with multiple congenital malformations due to partial 8q trisomy is reported. Karyotype-phenotype correlations suggest the possibility that partial trisomy 8q is a nosologically distinct syndrome.

Original language	English
Pages (from-to)	75-79
Number of pages	5
Journal	Acta Geneticae Medicae et Gemellologiae
Volume	27
Issue number	1
Publication status	Published - 1978

ASJC Scopus subject areas

Genetics(clinical)

Cite this

@article{cd3bcf93d8b14a23a4e868d1db113e31,

title = "Partial trisomy 8q resulting from maternal translocation t(2;8)(q373;q23)",

abstract = "A patient with multiple congenital malformations due to partial 8q trisomy is reported. Karyotype-phenotype correlations suggest the possibility that partial trisomy 8q is a nosologically distinct syndrome.",

author = "Giorgi, {P. L.} and E. Tarantino and A. Formica and P. Cipriani and B. Dallapiccola",

year = "1978",

language = "English",

volume = "27",

pages = "75--79",

journal = "Acta Geneticae Medicae et Gemellologiae",

issn = "0001-5660",

publisher = "Associazione Istituto di Genetica Medica e Gemellologia Gregorio Mendel",

number = "1",

}

TY - JOUR

T1 - Partial trisomy 8q resulting from maternal translocation t(2;8)(q373;q23)

AU - Giorgi, P. L.

AU - Tarantino, E.

AU - Formica, A.

AU - Cipriani, P.

AU - Dallapiccola, B.

PY - 1978

Y1 - 1978

N2 - A patient with multiple congenital malformations due to partial 8q trisomy is reported. Karyotype-phenotype correlations suggest the possibility that partial trisomy 8q is a nosologically distinct syndrome.

AB - A patient with multiple congenital malformations due to partial 8q trisomy is reported. Karyotype-phenotype correlations suggest the possibility that partial trisomy 8q is a nosologically distinct syndrome.

UR - http://www.scopus.com/inward/record.url?scp=0018236487&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018236487&partnerID=8YFLogxK

M3 - Article

C2 - 751384

AN - SCOPUS:0018236487

SN - 0001-5660

VL - 27

SP - 75

EP - 79

JO - Acta Geneticae Medicae et Gemellologiae

JF - Acta Geneticae Medicae et Gemellologiae

IS - 1

ER -

Partial trisomy 8q resulting from maternal translocation t(2;8)(q373;q23)

Abstract

ASJC Scopus subject areas

Other files and links

Fingerprint

Cite this