UN NOUVEAU CAS DE TRISOMIE 4p PARTIELLE

M. Crisalli; R. Monteverde; E. Bonioli; M. G. Vianello

UN NOUVEAU CAS DE TRISOMIE 4p PARTIELLE

Translated title of the contribution: A new case of partial trisomy 4p

M. Crisalli, R. Monteverde, E. Bonioli, M. G. Vianello

Istituto "Giannina Gaslini"

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

Abstract

A karyotype 46,XX dup(4) (p15 p16) has been seen in a girl with mental debility, hypotrophic height and weight, and a dysmorphic syndrome, the most salient symptoms of which are: microcephaly, bulging forehead, macrostomia, very hypoplasic mandible with a very obtuse postero inferior angle; cylindrical thorax, hypoplasic pelvis, 13 ribs and anomalies of the extremities. The chromosomes of the parents are normal.

Translated title of the contribution	A new case of partial trisomy 4p
Original language	French
Pages (from-to)	96
Number of pages	1
Journal	Journal de Genetique Humaine
Volume	23
Issue number	sup
Publication status	Published - 1975

ASJC Scopus subject areas

Genetics(clinical)

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title = "UN NOUVEAU CAS DE TRISOMIE 4p PARTIELLE",

abstract = "A karyotype 46,XX dup(4) (p15 p16) has been seen in a girl with mental debility, hypotrophic height and weight, and a dysmorphic syndrome, the most salient symptoms of which are: microcephaly, bulging forehead, macrostomia, very hypoplasic mandible with a very obtuse postero inferior angle; cylindrical thorax, hypoplasic pelvis, 13 ribs and anomalies of the extremities. The chromosomes of the parents are normal.",

author = "M. Crisalli and R. Monteverde and E. Bonioli and Vianello, {M. G.}",

year = "1975",

language = "Francese",

volume = "23",

pages = "96",

journal = "Journal de Genetique Humaine",

issn = "0021-7743",

publisher = "Medecine Et Hygiene",

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T1 - UN NOUVEAU CAS DE TRISOMIE 4p PARTIELLE

AU - Crisalli, M.

AU - Monteverde, R.

AU - Bonioli, E.

AU - Vianello, M. G.

PY - 1975

Y1 - 1975

N2 - A karyotype 46,XX dup(4) (p15 p16) has been seen in a girl with mental debility, hypotrophic height and weight, and a dysmorphic syndrome, the most salient symptoms of which are: microcephaly, bulging forehead, macrostomia, very hypoplasic mandible with a very obtuse postero inferior angle; cylindrical thorax, hypoplasic pelvis, 13 ribs and anomalies of the extremities. The chromosomes of the parents are normal.

AB - A karyotype 46,XX dup(4) (p15 p16) has been seen in a girl with mental debility, hypotrophic height and weight, and a dysmorphic syndrome, the most salient symptoms of which are: microcephaly, bulging forehead, macrostomia, very hypoplasic mandible with a very obtuse postero inferior angle; cylindrical thorax, hypoplasic pelvis, 13 ribs and anomalies of the extremities. The chromosomes of the parents are normal.

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M3 - Articolo

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AN - SCOPUS:0016763188

VL - 23

SP - 96

JO - Journal de Genetique Humaine

JF - Journal de Genetique Humaine

SN - 0021-7743

IS - sup

ER -