Ring chromosome 8 associated with microcephaly

R. Mingarelli; G. Valorani; L. Zelante; B. Dallapiccola

Ring chromosome 8 associated with microcephaly

R. Mingarelli, G. Valorani, L. Zelante, B. Dallapiccola

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

Abstract

A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).

Original language	English
Pages (from-to)	90-92
Number of pages	3
Journal	Annales de Genetique
Volume	34
Issue number	2
Publication status	Published - 1991

Keywords

chromosome 8
mental retardation
microcephaly
ring chromosome

ASJC Scopus subject areas

Genetics

Cite this

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title = "Ring chromosome 8 associated with microcephaly",

abstract = "A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).",

keywords = "chromosome 8, mental retardation, microcephaly, ring chromosome",

author = "R. Mingarelli and G. Valorani and L. Zelante and B. Dallapiccola",

year = "1991",

language = "English",

volume = "34",

pages = "90--92",

journal = "Annales de Genetique",

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T1 - Ring chromosome 8 associated with microcephaly

AU - Mingarelli, R.

AU - Valorani, G.

AU - Zelante, L.

AU - Dallapiccola, B.

PY - 1991

Y1 - 1991

N2 - A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).

AB - A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).

KW - chromosome 8

KW - mental retardation

KW - microcephaly

KW - ring chromosome

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AN - SCOPUS:0025995926

VL - 34

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JO - Annales de Genetique

JF - Annales de Genetique

SN - 0003-3995

IS - 2

ER -

Ring chromosome 8 associated with microcephaly

Abstract

Keywords

ASJC Scopus subject areas

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