Translocation Y/5 resulting in Cri du Chat syndrome

P. Vignetti; L. Chessa; L. Bruni; E. Ferrante; B. Dallapiccola

Translocation Y/5 resulting in Cri du Chat syndrome

P. Vignetti, L. Chessa, L. Bruni, E. Ferrante, B. Dallapiccola

Ospedale Pediatrico Bambino Gesu

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

Abstract

A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.

Original language	English
Pages (from-to)	319-322
Number of pages	4
Journal	Clinical Genetics
Volume	12
Issue number	6
Publication status	Published - 1977

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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title = "Translocation Y/5 resulting in Cri du Chat syndrome",

abstract = "A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.",

author = "P. Vignetti and L. Chessa and L. Bruni and E. Ferrante and B. Dallapiccola",

year = "1977",

language = "English",

volume = "12",

pages = "319--322",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

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TY - JOUR

T1 - Translocation Y/5 resulting in Cri du Chat syndrome

AU - Vignetti, P.

AU - Chessa, L.

AU - Bruni, L.

AU - Ferrante, E.

AU - Dallapiccola, B.

PY - 1977

Y1 - 1977

N2 - A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.

AB - A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.

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AN - SCOPUS:0017712698

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JO - Clinical Genetics

JF - Clinical Genetics

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Translocation Y/5 resulting in Cri du Chat syndrome

Abstract

ASJC Scopus subject areas

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